Journalof

Medical

G

Editor: Martin BobrowNorth American Editor: P Michael Conneally (Indianapolis)Reviews Editor: Rodney Harris (Manchester)Cytogenetics Editor: A Schinzel (Zurich)Molecular Genetics Editor: Ann Harris (Oxford)Technical Editor: Clare Henderson

Stylianos E Antonarakis (Geneva)V Baranov (St Petersburg)D Timothy Bishop (Leeds)M H Breuning (Leiden) '

David F Callen (Adelaide)A Cao (Cagliari)David R Cox (San Francisco)A E Czeizel (Hungary)Gerry Evers-Kiebooms (Leuven)J P Fryns (Leuven)T Gedde-Dahl Jr (Oslo)Karl-Heinz Grzeschik (Marburg)Judith G Hall (Vancouver)M R Hayden (Vancouver)Patricia A Jacobs (Salisbury)Thaddeus E Kelly (Charlottesville)

P McGuffin (Cardiff)Victor A McKusick (Baltimore)Jean-Louis Mandel (Strasbourg)T Marteau (London)T Mazurczak (Warsaw)Margareta Mikkelsen (Copenhagen)Arnold Munnich (Paris)Grant R Sutherland (Adelaide)N Tommerup (Copenhagen)G J B van Ommen (Leiden)Tessa Webb (Birmingham)Andrew 0 M Wilkie (Oxford)I D Young (Nottingham)Y T Zeng (Shanghai)Editor,

British Medical Journal

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ISSN 0022-2593

EDITORIALCOMMITTEE

Book reviews

Severe intrauterinegrowth retardation withincreased mitomycin Csensitivity, or Nijmegenbreakage syndrome?

We read with great interest the paper byWoods et al' entitled "Severe intrauterinegrowth retardation with increased mitomycinC sensitivity: a further chromosome breakagesyndrome." We believe that this is an im-portant paper. However, we do not agree

that this patient has "a further chromosomebreakage syndrome".The reported infant had pre- and postnatal

microcephaly and growth retardation, a dis-tinctive facies, and developmental delay. Hebecame pancytopenic at 16 months and diedsoon after. Increased spontaneous randomchromosome breakage was seen in blood andfibroblast cultures. Mitomycin C inducedchromosome damage was increased and com-parable to that seen in Fanconi anaemia. Theauthors hypothesise that this entity of severe

intrauterine growth retardation and increasedmitomycin C sensitivity may be a distinctchromosome breakage syndrome.We suspect that the patient of Woods et al

most probably has the Nijmegen breakagesyndrome (NBS).2-4 The physical features,very well illustrated in the paper, as well as

the chromosomal breaks, are very suggestiveof this diagnosis. Unfortunately, a post-y ir-radiation DNA synthesis test has not beenperformed on the child's cells, nor a serum

oa fetoprotein determination, to differentiatefrom ataxia telangiectasia (AT).The hypospadias described in the patient

of Woods et al has not been previously re-

ported in NBS patients. However, we havefollowed up a boy of Yugoslavian origin affec-ted with NBS who presented with hypo-spadias and thus suspect that the childreported by Woods et al and our patient are

affected with a new clinical variant of NBS.At the end of their paper the authors inform

us that fibroblast cell line MI-C445 fromtheir patient is available from the MurdochInstitute for additional studies. We suggestthat a post-y irradiation DNA synthesis testbe performed on these cells to rule out or

confirm the diagnosis of NBS.In case this diagnosis is confirmed, the

cells of their patient and ours should havecomplementation studies with cell lines ofother patients diagnosed as NBS, to deter-mine whether they represent a separate andnew complementation group.

VAZKEN M DER KALOUSTIANALISON M ELLIOTTPATRICE EYDOUX

Divisions of Medical Genetics and Cytogenetics,Montreal Children' Hospital andMcGill University, 2300 Tupper,

Montreal, Quebec H3H IP3,Canada.

1 Woods CG, Leversha M, Rogers JG. Severe in-trauterine growth retardation with increasedmitomycin C sensitivity: a further chro-mosomal breakage syndrome. Med Genet1995;32:301-5.

2 Weemaes CMR, Hustinx TWJ, Scheres JMJC,van Munster PJJ, Bakkeren JAJ, TaalmanRDFM. A new chromosomal instability dis-order: the Nijmegen breakage syndrome. ActaPaediatr Scand 198 1;70:557-64.

3 Taalman RDFM, Jaspers NGJ, Scheres JMJC,de Wit J, Hustinx TWJ. Hypersensitivity toionizing radiation, in vitro, in a new chro-mosomal breakage disorder, the Nijmegenbreakage syndrome. Mutat Res 1983;112:23-32.

4 Barbi G, Scheres JMJC, Schindler D, et al. Chro-mosome instability and x-ray hypersensitivityin a microcephalic and growth-retarded child.Anm J Med Genet 1991;40:44-50.

BOOK REVIEWS

If you wish to order or require further in-formation regarding the titles reviewed here,please write to or telephone the BMJ Book-shop, PO Box 295, London WClH 9JR. Tel0171 383 6244. Fax 0171 383 6662. Booksare supplied post free in the UK and forBFPO addresses. Overseas customers shouldadd 15% for postage and packing. Paymentcan be made by cheque in sterling drawn on

a UK bank or by credit card (Mastercard,Visa, or American Express) stating card num-ber, expiry date, and full name. (The priceand availability are occasionally subject torevision by the Publishers.)

Prenatal Diagnosis: The Human Side.Editors L Abramsky, J Chapple. (Pp 211;£15.99.) London: Chapman and Hall. 1994.

This is the first book which devotes itselfentirely to the psychosocial implications ofprenatal diagnosis and screening. The mul-tidisciplinary array of chapter authors par-

ticipated in a conference at the Institute ofObstetrics and Gynaecology in London in1992, which showed the increasing awareness

among health care professionals of the emo-

tional sequelae to antenatal testing for ab-normality. The chapters, on the whole,complement one another rather than goingover the same ground, and are enhanced bybeing approached from so many differentperspectives (clinicians, genetic counsellors,midwives, ultrasonographers, research psy-

chologists, parents). The only chapter whichdoes not sit comfortably with the rest is theone on preimplantation diagnosis, as it mainlydescribes the procedure rather than focusingon acceptability and psychological aspects.

Jo Green and Lenore Abramsky's chaptersclearly set out the case for improved pretestcounselling, based both on research data (use-ful comprehensive list of references) and clin-ical experience, although they focus mostlyon routine population screening tests ratherthan prenatal diagnosis for genetic in-dications. Christine Garrett and LynCharlton's excellent chapter on difficult de-cisions will be of particular interest to geneticcounsellors (clinicians and coworkers) as theyfocus on those situations where the results ofprenatal diagnosis are less than clear. Theirdiscussion of decision making models is prac-tically focused.Although prenatal screening is provided

routinely in ultrasound departments, thepressures and dilemmas this poses for ra-

diographers has previously been given littleattention, so the chapter by an ultra-sonographer is an important contribution.Although the dilemmas outlined will no doubtbe familiar to radiographers, it is also in-formative for the rest of us to appreciatethe constraints placed on radiographers oftenbecause of historical protocol. The "humanside" of prenatal diagnosis must include theemotional impact on staff as well as on par-ents, but the chapter devoted to this, "Caringfor the carers", is too generic and staff con-

cerns are in fact better dealt with in the

chapter on late prenatal diagnosis (written byLucy Turner, a midwife). It would also havebeen interesting to include the impact onlaboratory staff.Helen Statham, writing from her own per-

sonal point of view as a mother, as wellas through her contacts with members ofSAFTA, describes how each diagnosis of ab-normality impacts on a family, even whenthe diagnosis and decision are "clear". Thechapter I liked most of all was that writtenby Ray Hall, the father of a baby terminatedafter the diagnosis of spina bifida. As hestates, so little is written about the father'sperspective, and as genetic counsellors we sooften feel at a loss as to know how to helpfathers, that I avidly read his candid accountand views on fathers' ways of coping.

Overall this volume is admirably com-prehensive, with the omission of chapters on(1) support for couples who choose not toterminate, through the pregnancy and after,and (2) parents at high genetic risk, who maybe facing a series of pregnancies and prenataltests. The editors state in their introductionthat the book is not intended to pass on alarge body of information, but rather to drawattention to the extent of psychosocial se-quelae stemming from prenatal screening anddiagnosis. This is in fact overly modest, as Iam sure that most people involved in pro-viding prenatal diagnostic services will learna great deal from this book as well as beingstimulated to re-evaluate their practice.

LAUREN KERZIN-STORRAR

Friendly Fire: Explaining AutoimmuneDisease. D Isenberg, J Morrow. (Pp 155;£17.99.) Oxford: Oxford University Press.1995. ISBN 0-19-262220-X.

Together with single gene disorders and mul-tifactorial diseases, such as cardiovascular dis-ease and cancer, autoimmune diseases arecurrently the object of much investigativeattention. As far as autoimmune disease isconcerned I believe this to be because of twofactors. The first is the intense contemporaryintellectual ferment which is the study ofimmunology, while the second is the strongdesire to exploit our emerging notions ofself tolerance in some practical form. In thetwilight years of the 20th century perhapsimmunology expresses the ultimate searchfor self, the search for that which makes usdifferent.Autoimmune disease in its purest sense is

the result of the immune system turning itsconsiderable firepower on its own host tissues.In this book the authors attempt to explain thedevastating impact of autoimmune diseaseon the unfortunate victim by invoking theconcept of "Friendly Fire". The term wascoined during the Gulf War to describe ac-cidental attrition against one's own side(which operationally meant the anti-Iraqi co-alition). The analogy is useful in that auto-immune diease is a relatively infrequentconsequence of that most potent of defensemechanisms, the host immune system. How-ever, the authors enjoy stretching their meta-phor to the point where it becomes irritating.I fail to see how neutrophils can be seen asthe equivalent of the SAS or Delta Force asclaimed on p 20. The latter are not numerousand are reputed to be highly selective killerswhereas neutrophil invasion of an inflamedtissue exhibits quite different characteristics.There are also problems with the Friendly

998

I Med Genet 1995;32:1001-1004

VOLUME 32 - AUTHOR INDEX

Key: A = Abstract: E = Editorial: L= Letter: P = Poster: RA = Review

Aalfs CM, 968Abbas N, 827Abdalla M, 282Abeliovich D, 985Abinum M, 154 (P)Adam G, 406 (L)Adams JN, 149 (P)Adeokun AM, 155 (P)Affara NA, 137 (A)AffleckJ, 140 (A), 150 (P)Agid Y, 399, 827Aguado S, 442Ahmad NN, 129Akagi K, 894Akarsu AN, 421, 435Akhan 0, 421, 435Al-Awadi SA, 555Al-Gazali LI, 7Al-Ghaban Z, 154 (P)Al Kawi Z, 325 (L)Al-Meshari AA, 623Al-Saleh Q, 555Al-Saw'an R, 555Al-Swailem AM, 623Al-Swailem AR, 623Albrechts JCM, 792Alday P, 909Alevizaki M, 987Allan L, 145 (P)Allewell NM, 680Almay BGL, 344Almeida JCC, 78 (L)Altherr MR, 65Alvarez J, 442Amati P, 778Amos W, 142 (A)Andersson PG, 954Andreasson S, 257Angelini C, 216Antoniadi T, 406 (L)Anvret M, 979Arena F, 257Arhya IN, 336Arias M, 442Armour JAL, 142 (A)Armstrong J, 458Armstrong JG, 145 (P)Armstrong RF, 147 (P)Armstrong SJ, 142 (A)Ashcroft KA, 227Asher JH, 336Ashizawa T, 516Atherton D, 749Attie T, 312Aurran Y, 597Ausems MGEM, 836 (L)Ayme S, 597

Baiget M, 105, 593, 689Bajalica S, 987Baker A, 148 (P)Baker E, 162Bakker E, 296, 325 (L), 736Balcells S, 740Baldwin CT, 531Balnaves ME, 537Bande-Knops J, 799Bankier A, 213, 493 (L)Baraitser M, 692Baranov A, 962Baranov V, 962Barber JCK, 138 (A)Barch MJ, 293Barker D, 257Barker JNWN, 142 (A)Barnes C, 140 (A)Barnes DM, 186Barnes N, 149 (P)Barnetson RA, 145 (P), 151 (P)Barnicoat AJ, 757 (L)Barohn RJ, 673 (RA)Barr FG, 52Barrett TG, 144 (A)Barrow M, 150 (P)Barth PG, 673 (RA)Barthelemy C, 269Barton DE, 142 (A), 146 (P), 151

(P), 352Barton JS, 636Baskaya G, 435Baty DU, 147 (P), 154 (P)Beach J, 516Beaumont C, 778

Beauregard L, 780Bebb CE, 957Beck L, 151 (P)Beighton P, 370Beis J, 787Belanger D, 982Beldjord C, 919 (L)Bell C, 137 (A), 153 (P)Benjamin N, 137 (A)Bennett CB, 154 (P)Bennett CP, 757 (L)Bennett MS, 502Bennett RL, 330Benson MD, 279Berger R, 480Berry AC, 557Berthier M, 778Bevan CL, 135 (A)Bhattacharya SS, 224, 240Bidwell JL, 867Biegel JA, 627Bienvenu T, 919 (L)Biesecker LG, 901Billette de Villemeur T, 659Billing CJ, 149 (P)Binchy A, 140 (A)Binkert F, 957Binks A, 140 (A), 150 (P)Birch JM, 942Bird AC, 240Bishop DT, 186Bishop T, 143 (A)Bittles AH, 143 (A)Black CM, 154 (P)Black G, 191Blackmore L, 358Blackwell J, 904Blair V, 139 (A)Blanton SH, 78 (L), 851Blennow E, 987Bobadilla L, 891Bobrow LG, 186Bobrow M, 142 (A), 153 (P),

170, 409 (E), 796Bocking AD, 147 (P)Bodmer J, 143 (A)Boerman RH, 44Bohlega S, 325 (L)Bolt J, 57Bonacquisto L, 537Bonduelle M, 531Bone Q, 142 (A)Bonne G, 670 (L)Bonneau D, 778, 951Bonnefont J-P, 654Bonnet J-P, 312Bontrop R, 142 (A)Boon LM, 197Borg I, 692Bottani A, 605Botto LD, 453Bourke JP, 151 (P)Bourn D, 138 (A), 470Bowen DJ, 446Boxer M, 147 (P), 154 (P)Boy R, 78 (L)Boyd E, 153 (P)Brandt B, 475Bravo RR, 650Brennan JP, 405 (L)Brentnall TA, 330Brewer CM, 148 (P)Brice A, 399, 827Briet E, 296Brock DJH, 137 (A), 290Br0ndum-Nielsen K, 19Brookes M, 149 (P)Brown A, 488Brown BD, 135 (A)Brown DL, 896Brown GK, 732Brown J, 149 (P)Browne CE, 138 (A), 139 (A)Buerstedde J-M, 909Bugge M, 19Buhner M, 669 (L)Bullock S, 144 (A), 153 (P), 154

(P)Bundey S, 144 (A)Bunyan DJ, 728Burguera JM, 740Burke W, 330Burn J, 146 (P), 150 (P), 227, 746

Burnett AK, 446Burvill-Holmes L, 825Buss PW, 716Butler AC, 306Butterworth MA, 154 (P)Byrd DR, 330Byrne L, 972Byth BC, 564

Callen DF, 113Camaschella C, 320Campbell CM, 138 (A)Campbell L, 93Campbell PL, 138 (A)Campos A, 32Cancel G, 827Cant AJ, 154 (P)Capon D, 216Carbonell P, 162Carey N, 593, 645Carothers A, 642Carrasco M, 907Carrier L, 670 (L)Carroll AJ, 619Carson D, 147 (P)Carson DJ, 143 (A)Carter NP, 564, 957Carter SA, 138 (A)Casaubon LK, 25Cashman SM, 972Cassa E, 827Cassiman J-J, 549Cassiman JJ, 316Castedo S, 375Castleden CM, 151 (P)Cerqueira A, 14Ceylaner S, 421Chabal F, 597Chabas A, 740Chan TK, 120Chan TPT, 120Chan V, 120Chan YW, 120Chang CM, 120Chapman C, 139 (A)Chapman P, 146 (P)Charles SJ, 1

Charlton R, 142 (A), 149 (P)Chatkupt S, 200Cheadle JP, 158 (L)Chemke J, 985Chen F, 938Chen R, 330Chevillard C, 231Chew SL, 934Christensen A-L, 600Christodoulou J, 220Chu CE, 138 (A), 153 (P), 578

(L)Church W, 144 (A), 519Cieply KM, 819Cieslinska I, 813Clamp A, 352Clancy R, 770Clancy T, 141 (A), 145 (P), 458Clark C, 144 (A), 519Clarke A, 492 (L), 673 (RA), 716Clarke C, 227Clarke D, 181Clarkson PA, 135 (A)Clayton-Smith J, 154 (P), 724Clemens M, 819Cobben JM, 375Cobo AM, 105, 689Cochrane S, 137 (A)Cockburn D, 142 (A)Cockburn F, 867Cole DEC, 787Cole T, 153 (P)Cole WG, 284Colley AC, 383Collins T, 896Collinson MN, 138 (A)ConnorJM, 138 (A), 141 (A),

152 (P), 153 (P), 154 (P),155 (P), 578 (L)

Conte RA, 405 (L)Cook A, 633CookJ, 144 (A)Cooke LB, 825Cooper DN, 543Corbett J, 181Corchia C, 453

Cormand B, 740Costa MT, 564Costa T, 492 (L)Coto E, 442Cotter F, 757 (L)Cotton RGH, 220Coulter-Mackie MB, 787Cox DW, 564Craig IW, 138 (A)Crauford D, 140 (A)Crawford JR, 358Creasy MR, 139 (A)Crispin D, 330Crolla JA, 138 (A), 236, 891Cross I, 149 (P), 746, 837 (L)Crossey PA, 137 (A), 885, 934Cu-Unjieng AB, 129Cuckle H, 758 (L)Cudrey C, 231Cuppens H, 549Curran J, 155 (P)Curtis A, 146 (P), 154 (P)Curtis G, 236

Dahia PLM, 934Dahl A, 257Dahlitz M, 181Dalby S, 490 (L), 838 (L)Dalgleish R, 284Dallapiccola B, 72, 216, 816Dalton A, 141 (A), 275Daniels RJ, 93Danks DM, 150 (P)Dasmahapatra J, 732David A, 605Davidson HR, 97, 153 (P)Davies AF, 557Davies DR, 145 (P)Davies EG, 147 (P)Davies HR, 135 (A)Davies KE, 93, 162, 236Davies R, 146 (P), 352, 458Davies SJ, 1, 137 (A)Davison EV, 146 (P)Dawodu AH, 7Dawson G, 493 (L)Day INM, 137 (A), 509Day LB, 509De Arce M, 972de Belleroche J, 841 (RA)de Die-Smulders CEM, 792De Diego Y, 907de Jong B, 309de la Chapelle A, 39, 976de Silva D, 145 (P), 862de Vries BBA, 764de Vries-v d Weerd S, 296Dean J, 144 (A), 145 (P)Dean JCS, 140 (A), 149 (P), 519Deans H, 862Decruyenaere M, 799, 836 (L)Delgado MG, 972Delhanty JDA, 568, 692Dellinger EP, 330Denborough MA, 913Denham B, 972Dennis N, 236Dennis NR, 138 (A), 139 (A)Denton MJ, 396Der Kaloustian VM, 998 (L)Deschenes SP, 697Deutz-Terlouw PP, 296D'Haens E, 951Digilio MC, 72Dijkstra PF, 764Dixon MJ, 806Dode C, 399Dodge AB, 149 (P)Dolle P, 851Dolman G, 113Donaldson C, 282Donaldson MDC, 138 (A), 153

(P), 578 (L)Donnai D, 149 (P), 724Donnelly A, 162Donoso LA, 129Dore J, 149 (P)Dorin JR, 136 (A)Doudounakis S, 406 (L)Dow DJ, 151 (P)Doyle D, 57Drake H, 796Driscoll DA, 561

1001

1002

Drugge U, 344Dubowitz V, 93, 673 (RA)Duckett D, 150 (P)Dumaret A, 597Dundar M, 154 (P), 155 (P)Dunlop M, 145 (P)Dunnill MGS, 749Duirr A, 399, 827Dusser D, 919 (L)

Eady RAJ, 749Eason J, 234Eccles DM, 728Edery P, 135 (A), 312Eedy DJ, 638Eiholzer U, 957Eisma WH, 375El-Hazmi MAF, 623El-Rifai W, 65Elbaz A, 44Elles RG, 147 (P)Elliott AM, 998 (L)Ellis A, 143 (A)Ellis FR, 155 (P)Ellis LA, 141 (A)Elmslie FV, 148 (P), 264Elsawi M, 143 (A), 147 (P)Elshafey AE, 152 (P)Elverland HH, 257Emanuel BS, 561Emons D, 242Emparanza JI, 105, 689Enayat MS, 140 (A), 152 (P)Eng C, 135 (A), 140 (A), 885,

934Engelen JJM, 792English C, 837 (L)Eriksen H, 257Estop AM, 819Evans DG, 161Evans DGR, 138 (A), 139 (A),

140 (A), 145 (P), 146 (P),352, 470, 823, 942

Evans G, 458Evans JP, 330Evans K, 224, 240Evers-Kiebooms G, 799, 836 (L)Eydoux P, 998 (L)Eyre HJ, 113Eyssen M, 316

Fagg NLK, 633Fairgrieve S, 150 (P)Fairweather N, 137 (A)Fantes J, 139 (A)Farag TI, 555Fardeau M, 673 (RA)Famdon P, 150 (P)Farndon PA, 140 (A)Farrar GJ, 855Farrer LA, 25, 531Feingold J, 399Felix C, 146 (P)Felix CA, 154 (P)Ferguson-Smith MA, 137 (A),

142 (A), 151 (P), 957Femrndez-Piqueras J, 131Fernandez JL, 32Fews GA, 146 (P)Field EA, 143 (A)Field JK, 143 (A)Finley WH, 619Finnis D, 728Fischbeck KH, 561Fitchett M, 139 (A)Fitzpatrick D, 141 (A)Flint J, 144 (A)Floderus Y, 979Florentin L, 48Fontaine B, 44Fontes M, 231Forrest S, 537Forrest SM, 493 (L)Foster K, 137 (A)Foster PS, 913Francis I, 537Francis MJ, 93Franks P, 150 (P)Frants RR, 44Frayling I, 145 (P)Friedman TB, 336Friedmann PS, 143 (A)Frischauf A-M, 208Froggatt NJ, 146 (P), 352Fry L, 546Fryburg JS, 465Fryer A, 143 (A), 149 (P), 743Fryns J-P, 326 (L), 549, 668 (L)Fryns JP, 117, 316Fujishita S, 325 (L)Fukazawa T, 590Fukushima Y, 831Furuya K, 363Fusco D, 453

Gabarr6n I, 162Gal A, 396, 915Galla-Voumvouraki A, 987Gallione CJ, 197Gardiner H, 264Gardner E, 135 (A)Gardner RJ, 142 (A)Garrett C, 144 (A)Garrick P, 150 (P)Garry-Battersby MB, 113Gasparini P, 320Gassner I, 125Gates LJ, 137 (A)Gaunt L, 149 (P), 154 (P)Gayther SA, 568Gaziev D, 245 (L)Gedeon AK, 162, 383Gelman-Kohan Z, 985Gerber S, 951Gertz MA, 279Geurds MPA, 52, 200Ghadirian P, 982Gheerbrandt J-D, 654Giannotti A, 72Gibbons B, 140 (A), 150 (P)Gibson RN, 150 (P)Gilbert F, 862Gilbert JR, 770Giles M, 146 (P)Gillanders V, 149 (P)Gillessen-Kaesbach G, 88Ginalska-Malinowska M, 885Giollant M, 962Giraud F, 597Glazner J, 537Glew R, 148 (P)Glover G, 162Glover T, 549Gonzalez-Duarte R, 740Goodbum S, 142 (A)Goodchild MC, 158 (L)Goodship J, 148 (P), 149 (P), 746Gosalvez J, 32Goto J, 701Goudie D, 147 (P)Goyanes V, 32Graham C, 147 (P)Graham CA, 61, 143 (A), 147 (P)Gran JT, 497 (RA)Grandi E, 216Gray E, 145 (P)Gray JR, 149 (P), 154 (P)Green AJ, 149 (P), 152 (P)Green E, 170Green EP, 153 (P)Green FR, 585Green JM, 805Green JS, 137 (A)Greene S, 153 (P)Greene SA, 138 (A), 578 (L)Greer A, 147 (P)Gregory CY, 224, 240Gregory H, 145 (P)Gregson NM, 138 (A)Grewal PK, 236Grimm T, 673 (RA), 930Grinberg D, 740Gross S, 88Grunfeld J-P, 654Gudnason V, 137 (A), 509Guerrini P, 216Guldberg P, 976Gupta A, 809Gupta S, 405 (L)Guttler F, 976Guy S, 458Guy SP, 145 (P)

Haan EA, 162Haites N, 137 (A), 144 (A), 145

(P), 862Haites NE, 140 (A), 145 (P), 153

(P), 519Hall C, 264Hall CM, 234, 415, 809Hall MH, 140 (A)Hall R, 389Hallam PJ, 543Halley DJJ, 764Hally AM, 855Halsall PJ, 155 (P)Hamada T, 590Hamel BCJ, 52, 200Hamers AJH, 792Hameury L, 269Hamzehloei T, 146 (P)Handig I, 531Hannebique G, 654Hansbro PM, 913Hanson I, 488Hanssen AMN, 117Harding AE, 81 (RA)Hardy CA, 181Harley HG, 145 (P), 151 (P), 732

Harper PS, 145 (P), 151 (P), 249(E), 329 (E), 706

Harrar H, 152 (P)Harrar JS, 774Harris PC, 208Harris R, 458Harvey JF, 138 (A)Harvie A, 867Hashemi J, 979Hatchwell E, 138 (A)Haverkamp F, 242Haworth A, 151 (P), 152 (P)Hay DA, 162Hayes J, 152 (P)Hayward C, 137 (A)Healey CS, 135 (A), 934Heath D, 151 (P)Hecht JT, 78 (L)Helmbold EA, 197Hennekam RCM, 968Henriksen KF, 976Herault J, 269Heron D, 659Hersh JH, 293Herva R, 36Hida A, 572Hildebrandt B, 68Hilgers R, 577 (L)Hill FGH, 140 (A), 152 (P)Hinnant JT, 336Hirst MC, 236, 761 (RA)Hizawa N, 363Hmadcha A, 907Hockey A, 162Hodgson S, 140 (A)Hodgson SV, 146 (P), 352Hoehn H, 669 (L)Hoeltge G, 780Hogan SP, 913Hohler T, 109Hol FA, 52, 200Holmberg M, 344Holmes LB, 896Holmgren G, 344Hols F, 143 (A)Holton A, 148 (P)Hoogenraad TU, 480Hoovers JMN, 968Hope IA, 136 (A)Hopkin J, 142 (A)Hopkins PM, 155 (P)Hopwood P, 139 (A)Horn D, 68Homer K, 458Horovitz D, 78 (L)Horsley S, 557Horsthemke B, 88, 475Houghton C, 934Houlston RS, 942Houwen RHJ, 480Howard J, 140 (A)Howard P, 143 (A)Howell A, 139 (A)Howell RT, 636, 825Hubert D, 919 (L)Hughes-Benzie R, 881Hughes DA, 136 (A)Hughes HE, 716Hughes IA, 135 (A)Hulten M, 502Hulten MA, 142 (A)Humphries MM, 855Humphries P, 855Humphries S, 137 (A)Humphries SE, 509, 585Hundt M, 109Hunt LP, 867Hurst J, 149 (P)Hurst JA, 139 (A)Husby G, 497 (RA)Huson SM, 148 (P), 706Hutchinson C, 144 (A), 519Huxley C, 904

Ignatius J, 93, 711Imaizumi K, 669 (L), 894Iprenburg M, 309Ireland M, 837 (L)Iselius L, 954Isles DE, 44Ivaschenko T, 962Iwabuchi K, 590

Jablonka S, 396Jackson A, 154 (P)Jackson IJ, 135 (A)Jacobs PA, 236James M, 149 (P)Jamieson CR, 143 (A)Jankovic J, 516Jardim E, 827Jaspan T, 275Jay M, 240, 946Jeffery S, 143 (A), 152 (P), 493

(L), 774

Jensen H, 348John S, 396Johnson DW, 197Johnson K, 593, 645Johnson KJ, 662Johnson WG, 200Johnston A, 137 (A)Johnston DI, 146 (P)Johnston WP, 524Jones AS, 143 (A)Jones CJP, 1

Jones CT, 290Jones L, 148 (P)Jones SM, 627Jouet M, 144 (A), 149 (P)Journel H, 951Joyce CA, 138 (A)Julian-Reynier C, 597Juyn J, 480

Kaariainen H, 711Kagore F, 859Kahk6nen M, 65Kaitila I, 39Kakkar VV, 543Kalousek DK, 871Kaminski E, 147 (P)Kanavakis E, 406 (L)Kanazawa I, 701Kanzler MH, 887Kaplan J, 951Kaplan J-C, 399, 919 (L)Kattamis C, 406 (L)Kawakami Y, 363Kawate N, 553Kaya-Westerloh S, 88Kekou K, 48Kelly K, 144 (A), 519Kelly KF, 140 (A)Kelly T, 780Kelly TE, 465Kelnar C, 153 (P)Kelnar CJH, 138 (A), 578 (L)Kenna PF, 855Kenwrick S, 144 (A), 149 (P)Keppler-Noreuil KM, 619Khan S, 743Kiang S, 855Kiaris H, 143 (A)Kidd A, 144 (A), 519Kielty CM, 1, 137 (A)Kilpatrick MW, 181, 492 (L)Kimmey M, 330Kincaid-Smith P, 150 (P)King A, 841 (RA)Kirchgessner CU, 925Kirchman 1TT, 887Kishida T, 938Kitsiou-Tzeli S, 987Kleijer WJ, 836 (L)Kletter GB, 553Knight LA, 994Knight MT, 401Knight SJL, 162Knip M, 486Knobloch 0, 577 (L)Knuutila S, 65Koch Di, 146 (P)Koch J, 352Koch MC, 148 (P)Kocher D, 152 (P)Kochmar SJ, 819Kodama N, 363Koenigsberger MR, 200Kojima J, 363Kok LL, 612Komajda M, 670 (L)Kondo I, 701Kondoh T, 325 (L)Konno T, 77 (L)Korner H, 68Kotze MJ, 379Kouvalainen K, 486Krawczak M, 543Krejci A, 125Kress W, 930Kreth HW, 756 (L)Krishnan VHR, 306Kroos MA, 836 (L)Kropinska E, 813Kulkami BM, 326 (L)Kulkarni ML, 326 (L)Kumar A, 770Kumar B, 326 (L)Kumar-Singh R, 855Kumaramanickavel G, 396Kunath B, 645Kunert E, 645Kupferling P, 645Kurahashi H, 669 (L)Kuroki Y, 669 (L), 894Kuznetzova T, 962Kwok JBJ, 135 (A)Kwong LC, 871

Author index

Author index

Lxgreid A, 979Lake BD, 749Lalloz MRA, 152 (P)Lamlum H, 585Lange BJ, 627Langenhoven E, 379Langlois S, 871Lanni R, 453Lanyon WG, 141 (A), 152 (P),

153 (P), 154 (P), 155 (P)Largilliere C, 654Laxova R, 144 (A)Layton DM, 152 (P)L'e Orme R, 636Le Paslier D, 231Leach KJ, 141 (A), 154 (P)Leegte B, 375Leggo J, 142 (A)Legius E, 316, 549Lehmann-Hom F, 148 (P)Leigh IM, 143 (A)Leisti J, 36, 65Lelord G, 269Lennard TWJ, 885Lennon F, 197Lenoir GM, 982Lentze MJ, 242Leonard JV, 144 (A)Leporrier N, 577 (L)Lerer I, 985Lerman MI, 938Leschot NJ, 968Letendre F, 982Leversha M, 301Levin M, 904Levy ML, 887Lewis K, 770Lewis RA, 887Leymarie P, 577 (L)Liang Y, 336Liebetrau W, 669 (L)Lilford R, 758 (L)Linderholm H, 344Lindley VH, 153 (P)Lindsay S, 837 (L)Links TP, 44Lintott CJ, 379Llerena JC, 78 (L)Llinares C, 131Loesch DZ, 162Logie U, 137 (A)Lohmann DR, 475Loiseau M-N, 778Lombes A, 654Long A, 275L6pez de Munain A, 105, 689L6pez I, 162Lopez-Fernandez C, 32Lopez-Larrea C, 442Lorda-Sanchez I, 957Losekoot M, 296, 325 (L)Losowsky MS, 389Loubser 0, 379Lubs H, 257Lucas M, 907Ludman MD, 787Lund PM, 859Lundin G, 979Lundquist PA, 876Lunt P, 149 (P)Lunt PW, 825Lurie IW, 668 (L)Lynch DR, 561Lynch HT, 982Lynch S, 149 (P)Lynch SA, 227Lynch SJ, 154 (P)Lyonnet S, 135 (A), 312, 659

McCartney ACE, 557MacConnachie A, 137 (A)McCreanor JR, 113McDermott A, 825Macdonald F, 146 (P)McDonald-McGinn DM, 561McDowell H, 743Macfarlane J, 149 (P)McGaughran JM, 823MacGeoch C, 186McGill JJ, 113McGown G, 942MacGregor GA, 493 (L)Macina RA, 52McInnes RR, 220McIntosh K, 97MacKenzie A, 93McKeown C, 146 (P)MacLachlan NA, 633McLean D, 325 (L)McLean M, 93McLeish L, 154 (P)Macleod PM, 25McMahon R, 142 (A)MacMillan J, 483McMullan DJ, 306

Macnicol AM, 208McPherson E, 819Macpherson JN, 236Maher E, 145 (A)Maher ER, 137 (A), 146 (P), 352,

885, 934Majewski F, 68Makazawa M, 915Makela-Bengs P, 36Makita Y, 669 (L)Makitie 0, 39Malet P, 962Malizewska C, 139 (A)Mallory JP, 143 (A)Malone GM, 151 (P), 152 (P)Maltby EL, 275Mannens MMAM, 968Manouvrier S, 654Mansergh FC, 855Mansour S, 415Marchuk DA, 197Marie SK, 14Mariman E, 143 (A)Mariman ECM, 52, 200Mark HFL, 780Markel DS, 197Maron A, 597Marteau T, 796Marteau TM, 140 (A), 838 (L)Martin J, 942Martineau J, 269Martinez JM, 593Martorell L, 105, 593, 689Marynen P, 316, 549Mason S, 138 (A)Mastrobattista JM, 851Mastroiacovo P, 453Masuda N, 701Masuno M, 669 (L), 894Mate I, 740Mathew CG, 153 (P), 170, 757

(L)Matsumoto T, 325 (L)Matsuo N, 572, 831Mattei JF, 245 (L)Matthaei KI, 913Matthews D, 546Mavrou A, 48Maw MA, 396May HM, 97May M, 257Maynard J, 706Mee AD, 848Meers LEC, 792Meijers JHC, 657Meiner A, 645Meire F, 531Meitinger T, 855Menardi G, 125Menendez MJ, 442Meng G, 930Menon KMJ, 553Mercer SJ, 139 (A)Meredith AL, 158 (L)Meredith R, 557Merin S, 985Merino JL, 740Metaxotou C, 48Meyer zum Biischenfelde K-H,

109Michels VV, 876Michie S, 140 (A), 796, 838 (L)Miedzybrodzka Z, 282Miedzybrodzka ZH, 140 (A)Migeon B, 236Millar DS, 543Millar-Jones L, 158 (L)Miller WA, 780Milligan D, 149 (P)Milner B, 145 (P)Milunsky A, 531Mingarelli R, 72, 816Mitchell JD, 470Mitchell MJ, 152 (P)Mittre H, 577 (L)Moeljopawiro S, 336Mohammed S, 140 (A)Mollison J, 140 (A)Molloy PT, 627Monaco T, 137 (A)Moncla A, 245 (L)Monte M, 982Moore J, 140 (A), 150 (P)Moore MR, 141 (A)Morgan S, 493 (L)Morizono H, 680Morris S, 57Morrison KE, 93Morrison PJ, 147 (P), 524Morton D, 146 (P)Morton J, 146 (P)Morton JE, 144 (A)Moser H, 673 (RA)Mountford RC, 147 (P)Mouret J-F, 399

Mouridsen SE, 921 (RA)Mowat AP, 148 (P), 264Mowery-Rushton PA, 819Mueller RF, 141 (A), 144 (A),

154 (P), 389Miih JP, 269Mulder MA, 657Mullaart RA, 52Muller B, 396, 930Muller CR, 930Muller H, 909Mulley JC, 162, 383Mulligan LM, 135 (A), 934Mulliken JB, 197Munnich A, 135 (A), 312, 654,

659, 951Murayama N, 701Murday VA, 154 (P), 809Muroya K, 831Mynett-Johnson L, 855

Nakagome Y, 572Nakahori Y, 572Nakamura M, 894Narcisi P, 135 (A)Narod SA, 982Nasser A, 326 (L)Navarrete D, 689Needham G, 862Needle MN, 627Neel JV, 143 (A)Nelck GF, 309Nelson DL, 887Neto JGB, 78 (L)Netzloff ML, 553Neu N, 125Neumann HPH, 137 (A)Nevin J, 61Nevin NC, 61, 143 (A), 147 (P),

524, 638Newbury-Ecob RA, 150 (P)Newport M, 904Ng ISL, 994Ng6 L, 605Nicholls AC, 135 (A)Nicholson L, 142 (A)Nicolino M, 836 (L)Niermeijer MF, 657, 764Nieste-Otter MA, 968Nishimura G, 894Noble JS, 389Norbury G, 148 (P), 191Norman A, 306Norrmnan J, 642Northrup H, 851Novelli G, 216Niisse M, 139 (A)Nuutinen M, 486

O'Brien RO, 913Oehlmann R, 396Ogata T, 572, 831Ohashi Y, 77 (L)Ohe M, 363Ohnuma N, 363Okitsu A, 645Old J, 142 (A)Oliver K, 144 (A)Olmer R, 296O'Loughlin J, 636Olson TM, 876Omer S, 325 (L)Ong PML, 141 (A)Oosterwijk JC, 736Oostra BA, 764Ophoff RA, 44O'Riordan JLH, 934Oriot D, 778Orrell R, 841 (RA)Osbom M, 706Ostertun B, 242Oude Luttikhuis MEM, 144 (A)

Padberg GW, 44Pal K, 557Palau F, 689Pang JT, 152 (P)Parent M, 654Park VM, 401, 650Parma DL, 475Parsons R, 146 (P)Passage E, 231Passarge E, 88Passos-Bueno MR, 14Pasyk KA, 197Patel A, 848Paterson JS, 97, 153 (P)Paterson WF, 138 (A)Patino A, 972Patterson MN, 135 (A)Patton MA, 143 (A), 147 (P), 152

(P), 774Ncheux C, 399Peeters AV, 379Peiper SC, 293

Pelet A, 312Peltonen L, 36Pembrey ME, 415Penman Splitt M, 148 (P)Perez de Castro I, 131Periam N, 142 (A)Periam NW, 145 (A)Pericak-Vance MA, 197, 770Perrot A, 269Peters T, 979Petit E, 269Petrou M, 749Phelan C, 982Philip N, 245 (L)Phillips JE, 1Phillips MF, 145 (P), 151 (P)Phillips PC, 627Pieneman WC, 296Pietarinen A, 65Pignatelli PM, 208Pilz DT, 275Pintado E, 907Pitts SH, 697Plaha D, 151 (P)Plessis G, 951Ploos van Amstel HK, 836 (L)Ploos van Amstel JK, 480Poenaru L, 836 (L)Pohlenz J, 393Ponder BAJ, 135 (A), 140 (A),

146 (P), 352, 706, 885, 934Ponder M, 706Ponder MA, 135 (A)Pongratz D, 148 (P)Ponjavic V, 257Poole MD, 174Pope FM, 135 (A), 749Porteous MEM, 137 (A)Posch A, 125Potter CG, 732Poulton J, 135 (A), 732Pound SE, 208Powles A, 546Poza JJ, 105, 689Prasher VP, 306Pratt N, 139 (A)Price SM, 148 (P)Prowse A, 137 (A), 934Pugsley R, 145 (A)Purandare SM, 153 (P)

Qiu H, 770Quarrell 0, 145 (A)Quarrell OWJ, 275, 352Qumsiyeh MB, 991

Radvany J, 25Raebum JA, 150 (P)Raha-Chowdhury R, 446Ramesar RS, 142 (A)Ramsden RT, 470Ramsden SC, 154 (P)Ransley YF, 809Rao VS, 25, 531Rappold G, 831Ravine D, 150 (P)Read AP, 147 (P), 531Reardon W, 174Reck AC, 728Redline RW, 896Redpath TW, 149 (P)Reish 0, 680Rennie M, 642Reuser AJJ, 836 (L)Richards AJ, 135 (A), 749Richards FM, 137 (A)Richards H, 825Richards RI, 162Ricker K, 148 (P)Rindl PM, 144 (A)Riordan-Eva P, 81 (RA)Rip J, 787Risk JM, 143 (A)Rittner C, 109Rivera H, 891Roberts E, 306Roberts JL, 293Roberts RG, 142 (A)Robinson H, 764Robinson PH, 375Robinson Wi, 957Rock MJ, 401Rodeck CH, 749Rodgers CS, 139 (A)Rodrigues NR, 93Rogers JG, 301Roos RAC, 325 (L)Rosbotham JA, 142 (A)Rosenberg NK, 600Rosenberg RN, 25Roses AD, 770Ross A, 147 (P)Rosser EM, 139 (A), 148 (P)Rotig A, 654Rouleau GA, 25

1003

Author index

Royer-Legrain G, 654Rozear M, 770Rozet J-M, 951Rubinsztein DC, 142 (A), 151 (P)Rudolph G, 855Ruiz JC, 549Russell IT, 140 (A)Russell MB, 954Rutledge SL, 619Ruttledge MH, 25

Sabarinathan K, 7Sabry MA, 555Sagen E, 979Saggar-Malik AK, 493 (L)St Clair D, 57, 642Saito I, 894Saiz-Ruiz J, 131Salo P, 711Sampson J, 144 (A)Sampson JR, 848Samson F, 673 (RA)Sandkuijl LA, 44Santibanez-Koref MF, 942Santos J, 131Sanz de Castro S, 442Sarfarazi M, 421, 435Sargan DR, 751Sasaki H, 590Sauermann W, 645Sauvage D, 269Savitsky GA, 962Sayli BS, 421, 435Sayli U, 421, 435Scambler P, 746Schaap C, 657Schaid DJ, 876Schapira AHV, 411 (RA)Scheuerle AE, 887Schinzel A, 957Schmidt RA, 330Schneider PM, 109Schofield A, 145 (P)Schonberger W, 393Schuster V, 756 (L)Schwartz C, 257Schwartz K, 670 (L)Schwartz IA, 348Schwarz MJ, 151 (P), 152 (P)Schwed N, 962Scorer J, 855Scott R, 909Scott RS, 379Sehmi I, 758 (L)Seidenspinner S, 756 (L)Sellar A, 142 (A)Seller MJ, 205, 557Semper J, 145 (P), 282Sepp T, 152 (P)Seres-Santamaria A, 154 (P)Shackley P, 282Sharland GK, 633Sharland M, 147 (P)Shashi V, 465Shaw AM, 145 (P), 151 (P)Shaw DJ, 151 (P)Shaw JH, 493 (L)Shaw JM, 143 (A)Shaw M-A, 904Shea-Simonds J, 728Sheffield LJ, 150 (P)Shelbourne P, 645Shepherd C, 638Sherer CR, 819Sheriden EA, 141 (A)Shibuya N, 325 (L)Shillito P, 881Shugart YY, 200Shulman LP, 650Shuttleworth CA, 1Siciliano MJ, 662Sierra J, 907Sijmons RH, 309Sijstermans JMJ, 792Sillence DO, 383Sillitoe NM, 138 (A)Silverstein S, 985Simola KOJ, 711Simpson JM, 633Simpson SA, 290, 358Sinaniotis C, 987Sipila I, 976Sitch FL, 138 (A)Sjo 0, 348Skirton H, 149 (P)

Slaney SF, 314Slater H, 493 (L)Slavotinek AM, 139 (A)Slayton RL, 697Sloan P, 458Slorach E, 642Smail P, 153 (P)Smail PJ, 138 (A), 578 (L)Smith B, 97Smith DP, 135 (A), 934Smith FW, 149 (P)Smith GW, 61Smith ME, 401Smith SA, 146 (P)Smooker PM, 220Snarey A, 208Sobrino JA, 740Solman RT, 612Soltan HC, 147 (P)Soong B-W, 404 (L)Sorensen SA, 600, 921 (RA)Sorour E, 483Souied E, 951Sousa PS, 827Spandidos DA, 143 (A)Speer MC, 770Spencer V, 154 (P)Spurr NK, 186Stacey M, 502Stajich J, 770Standaert L, 531Stec I, 930Steel KP, 136 (A)Stefaniak E, 813Stein JD, 78 (L)Stenroos ES, 200Stephenson A, 150 (P), 867Stephenson JBP, 881Stevanin G, 827Stevenson D, 145 (P)Stevenson K, 153 (P), 154 (P)Stevenson RE, 257Stewart AD, 155 (P), 389Stewart C, 150 (P), 770Stewart FJ, 143 (A), 147 (P)Stoilov I, 492 (L)Stolte-Dijkstra I, 764Strachan T, 138 (A), 470, 837 (L)Sud R, 568Sulaimani R, 623Sulisalo T, 39Summers D, 174Suomalainen A, 36Surti U, 819Sutherland GR, 162Suzuki Y, 590Swingler RJ, 290Sykes B, 732Szijan I, 475

Tachibana K, 669 (L)Tahvanainen E, 711Takada A, 590Tamai M, 915Tamisari L, 216Tan M, 994Tashiro K, 590Taske NL, 913Taslimi M, 991Tassabehji M, 141 (A)Tawn EJ, 251 (RA), 997 (L)Taylor AMR, 149 (P)Taylor GM, 139 (A), 997 (L)Taylor GR, 141 (A), 154 (P), 389te Meerman GJ, 102Teare MD, 942Tekes S, 138 (A)Temple IK, 138 (A)Templeton A, 140 (A)Teshima IE, 564Thakker N, 458Thakker RV, 152 (P)Theart L, 379Theophilus B, 140 (A), 152 (P)Thibodeau SN, 876Thiele H, 645Thomas AE, 585Thomas PS, 638Thomas S, 208Thompson P, 483Thomsen LL, 954Thomson EJ, 139 (A)Thormcroft M, 942Thunell S, 979Till M, 312Tjon Pian Gi CV, 764Toledo SPA, 934

Tolmie JL, 97, 148 (P), 881Tomasi A, 991Tomita K, 572Tonin P, 982Torhorst J, 909Torres P, 131Trager-Synodinos J, 406 (L)Tranebjarg L, 257Trembath R, 151 (P)Trembath RC, 142 (A), 144 (A),

145 (A), 148 (P)Trent RJ, 149 (P)Tricker KJ, 942Trounce JQ, 234Trump D, 152 (P)Tsezou A, 987Tsioupra K, 568Tsipouras P, 492 (L)Tsuchiya S, 77 (L)Tuchman M, 680Turner G, 186, 389, 764Tumpenny P, 144 (A), 519, 862Twist EC, 25Tyfield LA, 867Tzetis M, 406 (L)

Uemichi T, 279Unsinn KM, 125Upadhyaya M, 483, 706, 743

VainzofM, 14Vale-Santos JE, 44Valeba A, 113Valle D, 141 (A)Van Camp G, 531van de Vosse E, 736Van den Berghe H, 799van den Boogaard MJ, 836 (L)van den Burg I, 143 (A)van der Kraan M, 836 (L)van der Meulen MA, 102van der Meulen MJP, 102van der Wielen MJR, 736van Deutekom JC, 44van Diggelen OP, 836 (L)van Doom J, 764van Eijk R, 44van Essen AJ, 309Van Gerven V, 799Van Hemel JO, 657van Heyningen V, 139 (A), 488Van Opstal D, 657van Reen M, 143 (A)Van Roy B, 531Van Thienen MN, 531Vance J, 770Vargas FR, 78 (L)Varghese M, 7Varley JM, 942Vasquez AI, 891Vaughan ED, 143 (A)Verheij JBGM, 375Verloes A, 605Verma RS, 405 (L)Vignal A, 231Vikkula M, 197Vilageliu L, 740Visedo G, 131Visser JD, 309Vivian AJ, 148 (P), 264Vogelstein B, 146 (P)Voorhoeve E, 736Vos-Bender ML, 309Voss DH, 293Vuopala K, 36

Wade AF, 143 (A)Wagner S, 577 (L)Wakisaka A, 590Walker RG, 150 (P)Walker S, 149 (P)Wallace A, 470Wallace AJ, 141 (A)Wallgren-Pettersson C, 673 (RA)Wallis Y, 146 (P)Walton S, 149 (P)Wang J-T, 404 (L)Wang Q, 153 (P), 170, 757 (L)Warburg M, 19, 348Ward HB, 823Warman ML, 197Warmington VJ, 493 (L)Wames TW, 145 (P)Warren ST, 925Warsy AS, 623

Wassif W, 979Watanabe M, 701Waters JJ, 139 (A)Watkiss E, 151 (P)Watson ML, 208Watson MS, 780Watts S, 140 (A)Weavind GP, 509Webb T, 144 (A), 151 (P), 181Weber W, 909Weissenbach J, 352, 546, 951Welkenhuysen M, 799, 836 (L)Wellesley DG, 314Wells D, 568Wemme H, 393West S, 146 (P)West SP, 155 (P)Wevers R, 836 (L)Wheeler DC, 885Whitaker LA, 561Whitehead JL, 153 (P)Whittaker J, 143 (A)Whittall R, 509Whyte MP, 152 (P)Wijesuriya S, 240Wilkie AOM, 174Wilkinson DG, 136 (A)Willard HF, 925Willems PJ, 531Williams AJ, 896Williams D, 154 (P)Williams LJ, 146 (P)Williamson-Kruse L, 901Williamson R, 546, 904Willing MC, 697Wilson BE, 553Wilson J, 758 (L)Wilson LC, 144 (A)Wilson MJ, 383Wilson RD, 871Wilson WG, 564Winata S, 336Winter-Fuseau I, 778Winter R, 149 (P)Winter RM, 148 (P), 174, 264Winterpacht A, 393Wintzen AR, 44Wirth S, 393Withers AP, 154 (P)Wolf C, 645Wong MTH, 120Wood NAP, 867Wooding C, 152 (P)Woods CG, 301Woods G, 191Worwood M, 320, 446Wright AF, 208Wu R, 316

Xu S, 915

Yacoub OA, 293Yamaguchi E, 363Yamaoka L, 770Yang SP, 174Yates C, 642Yates JRW, 149 (P), 151 (P), 152

(P)Yen FF, 293Yip B, 120Yokoya S, 831Yong MH, 994Yong SL, 871Yoshiki T, 590Yoshizawa A, 831Young ID, 146 (P), 415Yu PWL, 162Yu S, 162Yu YL, 120Yuan X, 680

Zabel B, 393Zachmann M, 957Zackai EH, 561Zampino G, 453Zaremba J, 813Zatz M, 14Zbar B, 938Zerres K, 242Zhao Z, 25Zlotogora J, 919 (L), 985Zschocke J, 143 (A), 147 (P), 867Ziihlke C, 577 (L)Zunich J, 465Zwierstra RP, 375Zwolinski S, 227

1004

JMed Genet 1995;32:1005-1019

VOLUME 32 * SUBJECT INDEX

AAconitase, Hereditary myopathy with lactic acidosis, succinate

dehydrogenase and aconitase deficiency in northern Sweden: agenealogical study, 344

Acute intermittent porphyria, Four mutations in theporphobilinogen deaminase gene in patients with acuteintermittent porphyria, 979

Adolescents, Adolescents' opinions about genetic riskinformation, prenatal diagnosis, and pregnancy termination,799: comment, 805: letter, 836

Agammaglobulinaemia, A new point mutation involving ahighly conserved leucine in the Btk SH2 domain in a familywith X linked agammaglobulinaemia: letter, 77

Aicardi-Goutieres syndrome, The Aicardi-Goutieres syndrome(familial, early onset encephalopathy with calcifications of thebasal ganglia and chronic cerebrospinal fluid lymphocytosis):syndrome of the month, 881

Alagille syndromeAlagille syndrome: family studies, 264Alagille syndrome: is the face specific? 148 ptr

Aland Island eye disease (AIED), Duchenne musculardystrophy: negative electroretinograms and normal darkadaptation. Reappraisal of assignment of X linked incompletecongenital stationary night blindness, 348

Albinism, Oculocutaneous albinism among schoolchildren inHarare, Zimbabwe, 859

Aldosteronism, Description of two families in the north east ofScotland with glucocorticoid remediable aldosteronism, 137 abs

Allele distribution, Allele distribution of a highly polymorphicrepeat on chromosome 12 in patients with symptoms of choreaand ataxia: letter, 577

Allele loss, Rapid detection of rare variants and commonpolymorphisms in the APC gene by PCR-SSCP forpresymptomatic diagnosis and showing allele loss, 568

Alzheimer's diseaseApolipoprotein E4 allele is not associated with sporadic

Alzheimer's disease in British Asians, 151 ptrApolipoprotein E s4 allele is a risk factor for familial and sporadic

presenile Alzheimer's disease in both homozygote andheterozygote carriers, 642

Amniocytes, Difference in constitutive heterochromatinbehaviour between human amniocytes and lymphocytesdetected by a sequential in situ exonuclease III digestion-randomprimer extension procedure, 32

Amniotic fluid cell cultures, Detection of maternal cellcontamination in amniotic fluid cell cultures using fluorescentlabelled microsatellites, 61

Amplification mismatch deletion, Detection of germlinemutations in the RB 1 gene using amplification mismatchdetection analysis and direct sequencing of PCR products, 154ptr

Amyloid polyneuropathy, A new transthyretin variant (Ser 24)associated with familial amyloid polyneuropathy, 279

Amyotrophic lateral sclerosisFamilial amyotrophic lateral sclerosis/motor neurone disease

(FALS): a review of current developments, 841Screening for Cu/Zn superoxide dismutase gene mutations in

familial and sporadic cases of amyotrophic lateral sclerosis,152 ptr

Superoxide dismutase mutations in an unselected cohort ofScottish amyotrophic lateral sclerosis patients, 290

Androgen receptor, The role of the androgen receptor in malesexual differentiation, 135 abs

Angelhan syndromeA case of Angelman syndrome arising as a result of a de novo

Robertsonian 15/15 translocation, 154 ptrComparison of microsatellite and methylation studies for the

diagnosis of Prader-Willi and Angelman syndrome, 154 ptrMolecular and fluorescence in situ hybridisation (FISH) studies

of supernumerary marker 15 chromosomes, 138 absAniridia, A new PAX6 mutation in familial aniridia, 488Ankylosing spondylitis, HLA-B27 and spondyloarthropathy:

value for early diagnosis? review article, 497

Anonychia, Anonychia and absence/hypoplasia of distalphalanges (Cooks syndrome): report of a second family, 638

Anophthalmia, Anophthalmia with cleft palate and micrognathia:a new syndrome or an unusual presentation ofRubinstein-Taybisyndrome? letter, 668

Antenatal carrier screening, Antenatal carrier screening forcystic fibrosis: randomised trial of stepwise v couple screening,140 abs

Antenatal video counselling, Antenatal video counselling formaternal serum screening is an effective method ofcommunication, 150 ptr

Anterior horn cell disease, Lethal congenital contracturesyndrome (LCCS), a fetal anterior horn cell disease, is notlinked to the SMA 5q locus, 36

APC geneCranial desmoid tumour as the first presentation of familialadenomatous polyposis and the demonstration of the role ofthe APC gene in the pathogenesis of this tumour, 145 ptr

FAP patients with complete deletions of the APC gene, 146 ptrMutation detection in the APC gene by heteroduplex analysis

following RT PCR, 146 ptrRapid detection of rare variants and common polymorphisms

in the APC gene by PCR-SSCP for presymptomatic diagnosisand showing allele loss, 568

APC gene mutations, Genotype-phenotype correlations of newcausative APC gene mutations in patients with familialadenomatous polyposis, 728

Apolipoprotein E4, Apolipoprotein E4 allele is not associatedwith sporadic Alzheimer's disease in British Asians, 151 ptr

Apolipoprotein E4 allele, Apolipoprotein E c4 allele is a riskfactor for familial and sporadic presenile Alzheimer's disease inboth homozygote and heterozygote carriers, 642

Argentina, Identification of RB 1 germline mutations inArgentinian families with sporadic bilateral retinoblastoma, 475

Arrays, FMR1 triplet arrays: paying the price for perfection:review article, 761

Ataxia, Allele distribution of a highly polymorphic repeat onchromosome 12 in patients with symptoms of chorea and ataxia:letter, 577

Ataxia telangiectasia, The Nijmegen breakage syndrome is notan allelic form of ataxia telangiectasia, 149 ptr

Attitudes, Attitudes towards Down's syndrome: follow up of acohort of 280 cases, 597

Australia, The impact of newborn screening on cystic fibrosistesting in Victoria, Australia, 537

Autism, Association study with two markers of a humanhomeogene in infantile autism, 269

Autosomal dominance, Cluster headache is an autosomaldominantly inherited disorder in some families: a complexsegregation analysis, 954

Autosomal dominant optic atrophy, No evidence of geneticheterogeneity in dominant optic atrophy, 951

Autosomal dominant retinitis pigmentosa, Autosomaldominant retinitis pigmentosa locus on chromosome 19q in aJapanese family, 915

Autosomal genes, Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) amongsporadic muscular dystrophy males: a study of415 families, 930

Autosomal recessive disorder, Absence/hypoplasia of tibia,polydactyly, retrocerebellar arachnoid cyst, and other anomalies:an autosomal recessive disorder, 896

Azerbaijan, Thalassaemia in Azerbaijan: letter, 245

BBali, Congenital non-syndromal autosomal recessive deafness in

Bengkala, an isolated Balinese village, 336Barth syndrome, X linked fatal infantile cardiomyopathy maps

to Xq28 and is possibly allelic to Barth syndrome, 383Basal ganglia, The Aicardi-Goutieres syndrome (familial, early

onset encephalopathy with calcifications of the basal gangliaand chronic cerebrospinal fluid lymphocytosis): syndrome of themonth, 881

Becker muscular dystrophy, Deletion patterns of Duchenneand Becker muscular dystrophies in Greece, 48

1005

Subject index

Best's vitelliform macular dystrophy, Evidence for geneticheterogeneity in Best's vitelliform macular dystrophy, 855

Bipolar affective disorder, A weak association between TH andDRD2 genes and bipolar affective disorder in a Spanish sample,131

Bladder tumours, Molecular pathology of the RB 1 gene inretinoblastoma, breast and bladder tumours, 155 ptr

Blepharophimosis, Cytogenetic findings indicate heterogeneityin patients with blepharophimosis, epicanthus inversus, anddevelopmental delay, 19

Blepharophimosis-mental retardation syndrome, Ble-pharophimosis-mental retardation syndrome and terminaldeletion of chromosome 3p: letter, 245

Blepharophimosis-ptosis, Linkage studies in two families withblepharophimosis-ptosis confirms linkage to 3q21-3q23, 152 ptr

Blepharophimosis-ptosis syndrome, Linkage analysis inblepharophimosis-ptosis syndrome confirms localisation to3q21-24, 774

Blue rubber bleb naevus syndrome, A gene for familial venousmalformations maps to chromosome 9p in a second largekindred, 197

Bobrow M, Professor Martin Bobrow: biographical note, 410Bone marrow grafts, The use of microsatellite markers in

monitoring the progression of bone marrow grafts in patientswith severe combined immunodeficiency syndrome, 154 ptr

Book reviewsAbramsky L, Chapple J, editors. Prenatal diagnosis: the human

side, 998Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG, editors.

Assessing genetic risks: implications for health and socialpolicy, 671

Bouchard TJ, Propping P, editors. Twins as a tool of behaviouralgenetics, 327

Celis JE, editor. Cell biology - a laboratory handbook, 759Choo KH, editor. In situ hybridization protocols. Methods in

molecular biology No 33, 496Davies KE, Warren ST, editors. Genome rearrangement and

stability, 159Dodge JA, Brock DJH, Widdocombe JH, editors. Cystic fibrosis:

Current topics, volume 2, 408Dracopoli NC et al, editors. Current protocols in human genetics,

581Dronamraju KR, editor. Haldane's Daedalus revisited, 839Dunnett SB, Bjorklund A, editors. Functional neural

transplantation, 327Emery AEH. Muscular dystrophy - the facts, 581Epstein CJ, editor. The phenotypic mapping ofDown syndromeand other aneuploid conditions, 248

Friedmann T, editor. Molecular genetic medicine, volume 4,408

Gillon R, editor. Principles of health care ethics, 495Gorlin RJ, Toriello HV, Cohen MM. Hereditary hearing lossand its syndromes, 760

Harding AE, editor. Genetics in neurology, 671Hochgeschwender U, Gardiner K, editors. Identification of

transcribed sequences, 582Holton JB, editor. The inherited metabolic diseases, 2nd edition,

158Humphries SE, Malcolm S, editors. From genotype to

phenotype, 839Isenberg D, Morrow J. Friendly fire: explaining autoimmune

disease, 998Kingston HM. ABC of clinical genetics, 2nd edition, 247Latchman DS, editor. From genetics to gene therapy, 247Maclean N, editor. Animals with novel genes, 1000Majumder PP, editor. Human population genetics: a centennial

tribute to J B S Haldane, 79Medeiros-Neto G, Stanbury JB. Inherited disorders of the

thyroid system, 328Mendlewicz J, Papadimitrou GN, editors. Genetics of mental

disorders. Part I. Theoretical aspects, 920Nora JJ, Fraser FC, Bear J, Greenberg CR, Patterson D,Warburton D, editors. Medical genetics: principles andpractice, 4th edition, 159

Phillips PAS, Spigelman AD, Thompson JPS, editors. Familialadenomatous polyposis and other polyposis syndromes, 999

Price-Evans DA. Genetic factors in drug therapy: clinical andmolecular pharmacogenetics, 246

Robinson A, Linden MG, editors. Clinical genetics handbook,2nd edition, 247

Rushton AR. Genetics and medicine in the United States 1800to 1922, 247

Schrander-Stumpel C, editor. Clinical and genetic aspects of theX linked hydrocephalus/MASA spectrum, 839

Setlow JK, editor. Genetic engineering. Principles and methods,919

Sharma AK, Sharma A. Chromosome techniques - a manual,582

The molecular genetics of cancer. Cold Spring Harbor Symposiaon Quantitative Biology. Vol LIX, 999

Thorbum GD, Harding R, editors. Textbook of fetal physiology,672

Trent RJ. Molecular medicine. An introductory text for students,160

Tumpenny P, editor. Secrets in the genes, 999Ulijaszek SJ, Mascie-Taylor CGN, editors. Anthropometry: the

individual and the population, 582Wassarman PM, DePamphilis ML, editors. Guide to techniques

in mouse development. Methods in enzymology volume 225,248

Wolff JA, editor. Gene therapeutics. Methods and applicationsof direct gene transfer, 158

Wright AD, Jay B, editors. Molecular genetics of inherited eyedisorders, 583

BPES syndrome, Cytogenetic findings indicate heterogeneityin patients with blepharophimosis, epicanthus inversus, anddevelopmental delay, 19

BrachydactylyBrachydactyly and mental retardation: a new haploinsufficiency

syndrome, 144 absEvaluation of candidate genes for familial brachydactyly, 851

Branchio-oto-renal syndrome, Otofaciocervical syndrome: asporadic patient supports splitting from the branchio-oto-renalsyndrome, 816

Brazil, Myotonic dystrophy: genetic, clinical, and molecularanalysis of patients from 41 Brazilian families, 14

BRCA2, A large multisite cancer family is linked to BRCA2, 982Breast cancerA large multisite cancer family is linked to BRCA2, 982Attitudes to predictive testing for BRCA1, 140 absFactors influencing decisions on whether to proceed with

predictive testing for breast/ovarian cancers, 140 absIdentification of women at high genetic risk of breast cancer

through the National Health Service Breast ScreeningProgramme (NHSBSP), 862

Molecular pathology of the RB1 gene in retinoblastoma, breastand bladder tumours, 155 ptr

The impact of genetic counselling on risk perception in womenwith a family history of breast cancer, 139 abs

Use of linked markers in breast/ovarian cancer families, 145 ptrBruton's tyrosine kinase SH2 domain, A new point mutation

involving a highly conserved leucine in the Btk SH2 domainin a family with X linked agammaglobulinaemia: letter, 77

CCaenorhabditis elegans, The Caenorhabditis elegans approach

to genome analysis, 136 absCafe au lait spots, Familial cafe au lait spots: a variant of

neurofibromatosis type 1, 985CAG repeat, Characterisation of the unstable expanded CAG

repeat in the MJD 1 gene in four Brazilian families ofPortuguese descent with Machado-Joseph disease, 827

CAG triplet repeat, Sequence analysis of the CCG polymorphicregion adjacent to the CAG triplet repeat of the HD gene innormal and HD chromosomes, 399

Campomelic dysplasia, A clinical and genetic study ofcampomelic dysplasia, 415

Cancer familyCancer families: what risk are they given and do the risks affectmanagement? 139 abs

Large multisite cancer family is linked to BRCA2, 982Cancer predisposition, Genetic testing for cancer predisposition:need and demand: annotation, 161

Candidate gene, De novo 1;10 balanced translocation in aninfant with thanatophoric dysplasia: a clue to the locus of thecandidate gene, 293

Cardiac defect, An autosomal recessive syndrome of cleft palate,cardiac defect, genital anomalies, and ectrodactyly (CCGE), 72

Cardiomyopathy, X linked fatal infantile cardiomyopathy mapsto Xq28 and is possibly allelic to Barth syndrome, 383

1006

Subject index

Cardiovascular calcifications, Unusual expression ofGaucher'sdisease: cardiovascular calcifications in three sibs homozygousfor the D409H mutation, 740

Carrier screeningDirect marketing of cystic fibrosis carrier screening: commercial

push or population need? editorial, 249: letter, 758Extending availability of haemophilia A carrier detection to all

families with haemophilia, 152 ptrInversions in the factor VIII gene: improvement of carrier

detection and prenatal diagnosis in Dutch haemophilia Afamilies, 296

Stepwise or couple antenatal carrier screening for cystic fibrosis?:women's preferences and willingness to pay, 282

Cartilage-hair hypoplasia, Cartilage-hair hypoplasia: syndromeof the month, 39

Cartilage matrix protein, Exclusion of retinoic acid receptorand a cartilage matrix protein in non-syndromic CL(P) families:letter, 78

CataractAn unusual pedigree with microcomea-cataract syndrome, 813Ascertainment of myotonic dystrophy through cataract by

selective screening, 144 abs, 519Bilateral cataract and high serum ferritin: a new dominant

genetic disorder?, 778CCG polymorphic region, Sequence analysis of the CCGpolymorphic region adjacent to the CAG triplet repeat of theHD gene in normal and HD chromosomes, 399

CCGE syndrome, An autosomal recessive syndrome of cleftpalate, cardiac defect, genital anomalies, and ectrodactyly(CCGE), 72

Cell cycle regulation, Cell cycle regulation and signaltransduction mechanisms in yeast: the relevance to humandisease, 136 abs

Central nervous system tumours, Congenital anomalies andgenetic disorders in families of children with central nervoussystem tumours, 627

Cerebellar atrophy, Cerebellar atrophy in a patient withvelocardiofacial syndrome, 561

CF phenotype, Mild cystic fibrosis phenotype in patients withthe 3272-26A>G mutation: letters, 406, 919

CFTR gene, High incidence of AI507 mutation of the CFTRgene in a limited area of the north west of France: letter, 577

CGG repeat, Instability of the CGG repeat at the FRAXA locusand variable phenotypic expression in a large fragile X pedigree,907

Characteristics, Public attitudes towards the selection ofdesirable characteristics in children, 796

Charcot-Marie-Tooth diseaseConnexin 32 mutations in X linked dominant Charcot-Marie-Tooth disease, 137 abs

Inheritance of CMT1A duplication from a mosaic father, 483Charcot-Marie-Tooth disease type IA, Assignment of

microsatellite sequences to the region duplicated in CMT1A(17pl12): a useful tool for diagnosis, 231

ChildrenGIG response to the UK Clinical Genetics Society report "The

genetic testing of children": letter, 490Response to GIG's response to the UK Clinical Genetics Society

report "The genetic testing of children": letter, 838The genetic testing of children: letter, 492

CHIME syndrome, Neuroectodermal (CHIME) syndrome: anadditional case with long term follow up of all reported cases,465

China, DNA analysis ofHuntington's disease in southern Chinese,120

Chinese, A comparison of the Huntington's disease associatedtrinucleotide repeat between Chinese and white populations:letter, 404

Chinese law, Redrafted Chinese law remains eugenic: editorial,409

Cholinesterase variants, Cholinesterase variants: rapidcharacterisation by PCR/SSCP and evidence for molecularhomogeneity, 109

Chondrodysplasia, Cartilage-hair hypoplasia: syndrome of themonth, 39

Chorea, Allele distribution of a highly polymorphic repeat onchromosome 12 in patients with symptoms of chorea and ataxia:letter, 577

Chorionic villi, Pallister-Killian syndrome: normal karyotype inprenatal chorionic villi, in postnatal lymphocytes, and in slowly

growing epidermal cells, but mosaic tetrasomy 12p in skinfibroblasts, 68

Chromosomal localisation, Chromosomal localisation of a Yspecific growth gene(s), 572

Chromosome abnormalitiesAllele distribution of a highly polymorphic repeat onchromosome 12 in patients with symptoms of chorea andataxia: letter, 577

Association between high serum total IgE levels and DlIS97on chromosome 1 1q13 in Japanese subjects, 363

Autosomal dominant retinitis pigmentosa locus on chromosome19q in a Japanese family, 915

Bilateral split hand/foot malformation and inv(7)(p22q21.3),375

Blepharophimosis-mental retardation syndrome and terminaldeletion of chromosome 3p: letter, 245

Chromosome 13q deletion with Waardenburg syndrome: furtherevidence for a gene involved in neural crest function on 13q,531

Chromosome lp terminal deletion: report of new findings andconfirmation of two characteristic phenotypes, 619

Chromosome painting of radiation induced micronuclei, 139abs

Clinical features ofnine males with molecularly defined deletionsof the Y chromosome long arm, 711

Congenital knee dislocation in a 49,XXXXY boy, 309Cytogenetic findings indicate heterogeneity in patients with

blepharophimosis, epicanthus inversus, and developmentaldelay, 19

De novo 1; 10 balanced translocation in an infant withthanatophoric dysplasia: a clue to the locus of the candidategene, 293

Del(3)(p25.3) without phenotypic effect, 994Detecting deletions in the critical region for lissencephaly on

17p13.3 using fluorescent in situ hybridisation and a PCRassay identifying a dinucleotide repeat polymorphism, 275

Detection of Y mosaicism in patients with Tumer's syndrome:letter, 578

Developmental delay and dysmorphic features associated witha previously undescribed deletion on chromosome 1, 636

Difference in constitutive heterochromatin behaviour betweenhuman amniocytes and lymphocytes detected by a sequentialin situ exonuclease III digestion-random primer extensionprocedure, 32

Double non-disjunction in maternal meiosis II giving rise to afetus with 48,XXX, + 21, 650

Duplication 2 (qI 1.2-q2 1): a previously unreportedabnormality, 825

Exclusion mapping of chromosomal regions which crosshybridise to FSHDlA associated markers in FSHDIB, 770

Familial partial trisomy 8p without dysmorphic features andonly mild mental retardation, 792

Familial Xp+ chromosome, dup(Xq26.3--qter), 891Family with autosomal dominant polycystic kidney disease

linked to 4q21-23: letter, 493Fetus with an X;1 balanced reciprocal translocation and eye

disease, 557Further delineation of the partial proximal trisomy lOq

syndrome, 968Gene for familial venous malformations maps to chromosome9p in a second large kindred, 197

Genetic refinement of the chromosome 5q lattice comealdystrophy type I locus to within a 2 cM interval, 224

Good growth response to growth hormone treatment in the ringchromosome 15 syndrome, 486

Hamartomas from patients with tuberous sclerosis show loss ofheterozygosity for chromosome 9q34, 152 ptr

Hereditary multi-infarct dementia unlinked to chromosome19q12 in a large Scottish pedigree: evidence ofprobable locusheterogeneity, 57

Human Genetic and Chromosome Abnormality Register, 139abs

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;pl3.3) in a child with dysmorphic features, 819

Idiopathic hypoparathyroidism in two patients with 22ql 1microdeletion: letter, 669

Kabuki syndrome-like features in monozygotic twin boys witha pseudodicentric chromosome 13, 227

Kallmann syndrome in a boy with a t(1; 10) translocationdetected by reverse chromosome painting, 957

1 007

Subject index

Linkage analysis in blepharophimosis-ptosis syndrome confirmslocalisation to 3q21-24, 774

Linkage studies in two families with blepharophimosis-ptosisconfirms linkage to 3q21-3q23, 152 ptr

Machado Joseph disease maps to the same region ofchromosome 14 as the spinocerebellar ataxia type 3 locus, 25

Mapping a gene for Noonan syndrome to the long arm ofchromosome 12, 143 abs

Metachromatic leucodystrophy (MLD) in a patient with aconstitutional ring chromosome 22, 787

Molecular analysis of three patients with interstitial deletions ofchromosome band 14q31, 564

Molecular and fluorescence in situ hybridisation (FISH) studiesof supernumerary marker 15 chromosomes, 138 abs

Monozygotic twins with chromosome 22ql 1 deletion anddiscordant phenotype, 746

Multifocal renal cell carcinoma in sibs from a chromosome 9linked (TSC1) tuberous sclerosis family, 848

Neonatal spinal muscular atrophy with diaphragmatic paralysisis unlinked to 5q1.2-q13, 216

New X linked recessive deafness syndrome with blindness,dystonia, fractures, and mental deficiency is linked to Xq22,257

Oguchi disease: suggestion oflinkage to markers on chromosome2q, 396

Pallister-Killian syndrome: normal karyotype in prenatalchorionic villi, in postnatal lymphocytes, and in slowly growingepidermal cells, but mosaic tetrasomy 12p in skin fibroblasts,68

Parents and offspring with the same unbalanced chromosomerearrangements, 138 abs

Partial disomy of Xp and the presence of SRY in a phenotypicfemale, 987

Partial trisomy 22 (qI 1.2-q13. 1) as a result of duplication andpericentric inversion, 306

Patient with Wolf-Hirschhorn syndrome originating fromtranslocation t(4;8)(p16.3;q24.3)pat, 65

Prenatal detection of short arm deletion and isochromosome18 formation investigated by molecular techniques, 991

Prenatal and postnatal growth failure associated with maternalheterodisomy for chromosome 7, 871

Rare variants of chromosome 9 with extra G positive bandwithin the qh region are not alike: letter, 405

Recurrence ofDiGeorge syndrome: prenatal detection by FISHof a molecular 22ql 1 deletion, 657

Refinement of the localisation of the X linked keratosisfollicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2, 736

Saethre-Chotzen syndrome associated with balancedtranslocations involving 7p2l: three further families, 174

Severe intrauterine growth retardation with increased mitomycinC sensitivity: a further chromosome breakage syndrome, 301:letter, 998

Shwachman syndrome associated with de novo reciprocaltranslocation t(6;12)(ql6.2;q21.2), 894

UPD 13: no indication of maternal or paternal imprinting ofgenes on chromosome 13: letter, 493

WAGR syndrome and multiple exostoses in a patient withdel(ll)(pll.2pl4.2), 823

X inactivation of the FMR1 fragile X mental retardation gene,925

X linked fatal infantile cardiomyopathy maps to Xq28 and ispossibly allelic to Barth syndrome, 383

Y;15 translocation with two different unbalanced segregants,139 abs

Cleft lip (palate) families, Exclusion of retinoic acid receptorand a cartilage matrix protein in non-syndromic CL(P) families:letter, 78

Cleft palateAn autosomal recessive syndrome of cleft palate, cardiac defect,

genital anomalies, and ectrodactyly (CCGE), 72Anophthalmia with cleft palate and micrognathia: a newsyndrome or an unusual presentation of Rubinstein-Taybisyndrome? letter, 668

Clinical geneticsGeneral practitioners' expectations ofthe clinical genetics service

in two districts in the West Midlands, 140 absTraining in clinical genetics in the UK: experiences of trainees,

150 ptrWhat do general practitioners expect from the clinical genetic

service? 150 ptr

Cluster headache, Cluster headache is an autosomal dominantlyinherited disorder in some families: a complex segregationanalysis, 954

CMT1A duplication, Inheritance of CMT1A duplication froma mosaic father, 483

Cognitive performance, Cognitive performance in UK sampleof presymptomatic people carrying the gene for Huntington'sdisease, 358

COLlAl gene, Absence of mutations in the promoter of theCOLlAl gene of type I collagen in patients with osteogenesisimperfecta type I, 697

CollagenAbsence of mutations in the promoter of the COLlAl gene of

type I collagen in patients with osteogenesis imperfecta typeI, 697

Use of type VII collagen gene (COL7A1) markers in prenataldiagnosis of recessive dystrophic epidermolysis bullosa, 749

Collagen mutations, Various collagen mutations produce widelyvarying clinical phenotype, 135 abs

Colon cancer, Detection of new mutations in six out of 10 SwissHNPCC families by genomic sequencing of the hMSH2 andhMLH1 genes, 909

Colon cancer syndrome, Genetic linkage analysis in hereditarynon-polyposis colon cancer syndrome, 352

Colorectal cancer syndrome, Molecular genetic analysis ofhereditary non-polyposis colorectal cancer syndrome, 146 ptr

Congenital abnormalitiesCongenital anomalies and genetic disorders in families of

children with central nervous system tumours, 627The profile of major congenital abnormalities in the UnitedArab Emirates (UAE) population, 7

Congenital adrenal hyperplasia, Parental attitudes to theprenatal diagnosis and treatment of congenital adrenalhyperplasia, 146 ptr

Congenital heart diseaseCongenital heart disease in spondylothoracic dysostosis: two

familial cases, 633Right upper limb bud triplication and polythelia, left sidedhemihypertrophy and congenital hip dislocation, facialdysmorphism, congenital heart disease, and scoliosis:disorganisation-like spectrum or patterning gene defect?, 555

Congenital hip dislocation, Right upper limb bud triplicationand polythelia, left sided hemihypertrophy and congenital hipdislocation, facial dysmorphism, congenital heart disease, andscoliosis: disorganisation-like spectrum or patterning genedefect?, 555

Congenital myotonic dystrophy, Influence of the sex of thetransmitting grandparent in congenital myotonic dystrophy, 689

Connexin 32 mutations, Connexin 32 mutations in X linkeddominant Charcot-Marie-Tooth disease, 137 abs

ConsanguinityConsanguinity among the Saudi Arabian population, 623Consanguinity as a determinant of pre-reproductive mortality:

a global assessment, 143 absThe profile of major congenital abnormalities in the UnitedArab Emirates (UAE) population, 7

Cooks syndrome, Anonychia and absence/hypoplasia of distalphalanges (Cooks syndrome): report of a second family, 638

Cornelia de Lange syndrome, Partial trisomy 3q and the mildCornelia de Lange syndrome phenotype: letter, 837

Couple antenatal carrier screening, Stepwise or coupleantenatal carrier screening for cystic fibrosis?: women'spreferences and willingness to pay, 282

Cowden syndrome, Cowden syndrome: syndrome of the month,117

COX8 gene, The COX8 gene is not the disease gene of theCMH4 locus in familial hypertrophic cardiomyopathy: letter,670

Cranial desmoid tumour, Cranial desmoid tumour as the firstpresentation of familial adenomatous polyposis and thedemonstration ofthe role ofthe APC gene in the pathogenesisof this tumour, 145 ptr

Craniometaphyseal dysplasia, Craniometaphyseal dysplasia(CMD), autosomal dominant form, syndrome of the month,370

Craniosynostosis, Pfeiffer type cardiocranial syndrome: a thirdcase report, 901

Cryptic translocation, Identification of an unbalanced cryptictranslocation t(9; 17) (q34.3;p 13.3) in a child with dysmorphicfeatures, 819

1008

Subject index

CTGn allele, Instability of a normal (CTG)n allele in the DMkinase gene, 151 ptr

Cu/Zn superoxide dismutase gene, Screening for Cu/Znsuperoxide dismutase gene mutations in familial and sporadiccases of amyotrophic lateral sclerosis, 152 ptr

Cutis verticis gyrata, Cutis verticis gyrata: an unusual 15 weekfetus, 147 ptr

Cystic fibrosisAntenatal carrier screening for cystic fibrosis: randomised trial

of stepwise v couple screening, 140 absDirect marketing of cystic fibrosis carrier screening: commercial

push or population need? editorial, 249: letter, 758Family study describing second cousins with cystic fibrosis and

no common ancestor who is a carrier, 401High incidence of AI507 mutation of the CFTR gene in a

limited area of the north west of France: letter, 577Identification of cystic fibrosis mutations in Asians and eastern

Europeans, 151 ptrIdentification of mutations in 1200 cystic fibrosis genes from

the north west of England, 151 ptrIdentification of mutations of exon 13 of the CFTR gene by

SSCP and direct sequencing, 152 ptrImpact ofnewborn screening on cystic fibrosis testing in Victoria,

Australia, 537Irish cystic fibrosis database, 972Mild cystic fibrosis phenotype in patients with the 3272-26A>G

mutation: letters, 406, 919Screening for rare CF mutations using a joint SSCP/

heteroduplex strategy, 141 absStepwise or couple antenatal carrier screening for cystic fibrosis?:

women's preferences and willingness to pay, 282Two CF patients, one homozygous for the 621 + 1G>T splice

mutation, the other homozygous for the 1898 + 1G>A splicemutation: letter, 158

Cytogenetic analysis, Cytogenetic and molecular findings inpatients with Turner's syndrome stigmata, 962

DDllS97, Association between high serum total IgE levels andD 1597 on chromosome 1 1q13 in Japanese subjects, 363

D409H mutation, Unusual expression of Gaucher's disease:cardiovascular calcifications in three sibs homozygous for theD409H mutation, 740

Deafness, Congenital non-syndromal autosomal recessivedeafness in Bengkala, an isolated Balinese village, 336

Deafness syndrome, AnewX linked recessive deafness syndromewith blindness, dystonia, fractures, and mental deficiency islinked to Xq22, 257

DeletionsChromosome 1 3q deletion with Waardenburg syndrome: further

evidence for a gene involved in neural crest function on 13q,531

Chromosome lp terminal deletion: report of new findings andconfirmation of two characteristic phenotypes, 619

Del(3)(p25.3) without phenotypic effect, 994Detecting deletions in the critical region for lissencephaly on

l7pl13.3 using fluorescent in situ hybridisation and a PCRassay identifying a dinucleotide repeat polymorphism, 275

Developmental delay and dysmorphic features associated witha previously undescribed deletion on chromosome 1, 636

Molecular analysis of three patients with interstitial deletions ofchromosome band 14q31, 564

Prenatal detection of short arm deletion and isochromosome18 formation investigated by molecular techniques, 991

WAGR syndrome and multiple exostoses in a patient withdel(11)(pl.1.2p14.2), 823

Dementia, Hereditary multi-infarct dementia unlinked tochromosome l9q12 in a large Scottish pedigree: evidence ofprobable locus heterogeneity, 57

Dental panoramic radiographs, The dental phenotype infamilial adenomatous polyposis: diagnostic application of aweighted scoring system for changes on dental panoramicradiographs, 458

Dentatorubral and pallidoluysian atrophy, Allele distributionof a highly polymorphic repeat on chromosome 12 in patientswith symptoms of chorea and ataxia: letter, 577

Desirable characteristics, Public attitudes towards the selectionof desirable characteristics in children, 796

Developmental delayCytogenetic findings indicate heterogeneity in patients with

blepharophimosis, epicanthus inversus, and developmentaldelay, 19

Developmental delay and dysmorphic features associated witha previously undescribed deletion on chromosome 1, 636

DHP receptor a-i subunit (CACLN1A3) gene, Mutation inDHP receptor a-1 subunit (CACLN1A3) gene in a Dutchfamily with hypokalaemic periodic paralysis, 44

DHPR al subunit, Exclusion of defects in the skeletal musclespecific regions of the DHPR al subunit as frequent causes ofmalignant hyperthermia, 913

DHPR deficiency, A mutation causing DHPR deficiency resultsin a frameshift and a secondary splicing effect, 220

Diabetes, Familial pancreatic adenocarcinoma: association withdiabetes and early molecular diagnosis, 330

Diabetes mellitus, Point mutation of the mitochondrialtRNALeu gene (A 3243 G) in maternally inherited hypertrophiccardiomyopathy, diabetes mellitus, renal failure, andsensorineural deafness, 654

Diagnosis, "Dysmorphic unknowns": does follow up lead todiagnosis? 148 ptr

Diaphragmatic paralysis, Neonatal spinal muscular atrophywith diaphragmatic paralysis is unlinked to 5ql 1.2-ql3, 216

"DIDMOAD" syndrome, "DIDMOAD" syndrome: adegenerative dilemma, 144 abs

DiGeorge syndromeComparison of facial features of DiGeorge syndrome (DGS)due to deletion 10pl3-l0pter with DGS due to 22qlldeletion, 149 ptr

Recurrence of DiGeorge syndrome: prenatal detection by FISHof a molecular 22q1 1 deletion, 657

Unusual (CGG)n expansion and recombination in a family withfragile X and DiGeorge syndrome, 236

Dihydropteridine reductase deficiency, A mutation causingDHPR deficiency results in a frameshift and a secondary splicingeffect, 220

Dilated cardiomyopathy, Dominantly inherited dilatedcardiomyopathy in a Somerset family, 149 ptr

Dilated cardiomyopathy, Exclusion of a primary gene defect atthe HIA locus in familial idiopathic dilated cardiomyopathy,876

Dinucleotide repeat polymorphism, Detecting deletions in thecritical region for lissencephaly on l7pl3.3 using fluorescent insitu hybridisation and a PCR assay identifying a dinucleotiderepeat polymorphism, 275

Direct marketing, Direct marketing of cystic fibrosis carrierscreening: commercial push or population need? editorial, 249:letter, 758

Disomy, Partial disomy of Xp and the presence of SRY in aphenotypic female, 987

Disseminated atypical mycobacterial infection, Evidence forexclusion of a mutation in NRAMP as the cause of familialdisseminated atypical mycobacterial infection in a Maltesekindred, 904

Distal phalanges, Anonychia and absence/hypoplasia of distalphalanges (Cooks syndrome): report of a second family, 638

DM gene, Are cataract patients at high risk of being minimal DMgene carriers? 151 ptr

DM kinase gene, Instability of a normal (CTG)n allele in theDM kinase gene, 151 ptr

DNA analysisCytogenetic and molecular findings in patients with Turner'ssyndrome stigmata, 962

DNA analysis of Huntington's disease in southern Chinese, 120DNA isolation method, Modification of standard proteinase K/phenol method for DNA isolation to improve yield and purityfrom frozen blood, 129

DNA methylation based testing, DNA methylation basedtesting of 450 patients suspected of having Prader-Willisyndrome, 88

DNA microsatellite analysis, DNA microsatellite analysis offamilies with autosomal dominant polycystic kidney diseasetypes 1 and 2: evaluation of clinical heterogeneity between bothforms of the disease, 442

DNA testing, Emotional and functional impact of DNA testingon patients with symptoms of Huntington's disease, 516

Dopamine D2 receptor gene, A weak association between THand DRD2 genes and bipolar affective disorder in a Spanishsample, 131

Down's syndromeAntenatal video counselling for maternal serum screening is an

effective method of communication, 150 ptrAttitudes towards Down's syndrome: follow up of a cohort of280 cases, 597

1009

Subject index

Experience of maternal serum screening for Down's syndromewith a high "cut off' risk, 150 ptr

Duchenne muscular dystrophyDeletion patterns ofDuchenne and Becker muscular dystrophies

in Greece, 48Different muscle specific promoter characteristics in two sibs

with Duchenne muscular dystrophy: letter, 325Duchenne muscular dystrophy: negative electroretinograms andnormal dark adaptation. Reappraisal ofassignment ofX linkedincomplete congenital stationary night blindness, 348

Mutation detection and carrier diagnosis in Duchenne musculardystrophy by pulsed field gel electrophoresis, 142 abs

One hundred and ninety four prenatal diagnoses for Duchennemuscular dystrophy, 147 ptr

DuplicationA familial Xp+ chromosome, dup(Xq26.3--qter), 891Duplication 2 (qi 1 .2-q2 1): a previously unreported

abnormality, 825Dwarfism, Renal tubular leakage complicating microcephalic

osteodysplastic primordial dwarfism, 234DXS255, A variant of Wiskott-Aldrich syndrome withnephropathy is linked to DXS255: letter, 757

DXYS15, Short stature in a girl with partial monosomy of thepseudoautosomal region distal to DXYS15: further evidencefor the assignment of the critical region for a pseudoautosomalgrowth gene(s), 831

Dysmorphic featuresDevelopmental delay and dysmorphic features associated with

a previously undescribed deletion on chromosome 1, 636Identification of an unbalanced cryptic translocation t(9;

17)(q34.3;pl3.3) in a child with dysmorphic features, 819"Dysmorphic unknowns", "Dysmorphic unknowns": does

follow up lead to diagnosis? 148 ptrDystrophic epidermolysis bullosa, Use of type VII collagen

gene (COL7A1) markers in prenatal diagnosis of recessivedystrophic epidermolysis bullosa, 749

Dystrophin gene, Analysis of point mutations in the dystrophingene, 142 abs

Dystrophins, Phylogenetic analysis ofvertebrate and invertebratedystrophins and utrophins, 142 abs

EEctodermal dysplasia, Twenty-four cases ofthe EEC syndrome:

clinical presentation and management, 716Ectrodactyly, An autosomal recessive syndrome of cleft palate,

cardiac defect, genital anomalies, and ectrodactyly (CCGE), 72Editorial postscript, Editorial postscript: 10 years of change and

evolution, 329EEC syndrome, Twenty-four cases ofthe EEC syndrome: clinical

presentation and management, 716Elastin, Hemizygosity at the elastin locus (7qll) in Williams

syndrome: a clinical tool? 145 absElectroretinogram, Duchenne muscular dystrophy: negative

electroretinograms and normal dark adaptation. Reappraisal ofassignment of X linked incomplete congenital stationary nightblindness, 348

Emotional impact, Emotional and functional impact of DNAtesting on patients with symptoms of Huntington's disease, 516

Encephalocraniocutaneous lipomatosis, Encephalocranio-cutaneous lipomatosis with a mutation in the NFl gene, 316

Epicanthus inversus, Cytogenetic findings indicateheterogeneity in patients with blepharophimosis, epicanthusinversus, and developmental delay, 19

Eugenics, Redrafted Chinese law remains eugenic: editorial, 409Exon 3, Utilities for high throughput use of the single stand

conformational polymorphism method: screening of 791patients with familial hypercholesterolaemia for mutations inexon 3 of the low density lipoprotein receptor gene, 509

Exonuclease HI, Difference in constitutive heterochromatinbehaviour between human amniocytes and lymphocytesdetected by a sequential in situ exonuclease III digestion-randomprimer extension procedure, 32

Exostoses, WAGR syndrome and multiple exostoses in a patientwith del(11)(plI.2p14.2), 823

Eye disease, A fetus with an X; 1 balanced reciprocal translocationand eye disease, 557

FFacial dysmorphism, Right upper limb bud triplication and

polythelia, left sided hemihypertrophy and congenital hipdislocation, facial dysmorphism, congenital heart disease, and

scoliosis: disorganisation-like spectrum or patterning genedefect?, 555

Facioscapulohumeral muscular dystrophy, Exclusionmapping of chromosomal regions which cross hybridise toFSHD1A associated markers in FSHD1B, 770

FactorV Leiden variant, Population differences in the frequencyof the factor V Leiden variant among people with clinicallysymptomatic protein C deficiency, 543

Factor VIII gene, Inversions in the factor VIII gene: improvementof carrier detection and prenatal diagnosis in Dutch haemophiliaA families, 296

Familial adenomatous polyposisCranial desmoid tumour as the first presentation of familialadenomatous polyposis and the demonstration of the role ofthe APC gene in the pathogenesis of this tumour, 145 ptr

FAP patients with complete deletions of the APC gene, 146 ptrGenotype-phenotype correlations in familial adenomatous

polyposis, 145 ptrGenotype-phenotype correlations of new causative APC gene

mutations in patients with familial adenomatous polyposis,728

Phenotype-genotype correlation in familial adenomatouspolyposis, 146 ptr

The dental phenotype in familial adenomatous polyposis:diagnostic application of a weighted scoring system forchanges on dental panoramic radiographs, 458

Familial amyloid polyneuropathy, A new transthyretin variant(Ser 24) associated with familial amyloid polyneuropathy, 279

Familial amyotrophic lateral sclerosis, Familial amyotrophiclateral sclerosis/motor neurone disease (FALS): a review ofcurrent developments, 841

Familial hypercholesterolaemiaScreening for mutations in exon 4 of the LDL receptor gene:

identification of a new deletion mutation, 379The impact of mutations in repeat 5 of the ligand bindingdomain of the LDL receptor on the clinical phenotype offamilial hypercholesterolaemia, 137 abs

Utilities for high throughput use of the single standconformational polymorphism method: screening of 791patients with familial hypercholesterolaemia for mutations inexon 3 of the low density lipoprotein receptor gene, 509

Fanconi anaemia group C gene, Prototype sequence clueswithin the Fanconi anaemia group C gene: letter, 669

Ferritin, Bilateral cataract and high serum ferritin: a newdominant genetic disorder?, 778

Fetal valproate syndromeFetal valproate syndrome: follow up of infants diagnosed at

birth, 148 ptrFetal valproate syndrome: syndrome of the month, 724

FibrillinMarfan syndrome: fibrillin expression and microfibrillar

abnormalities in familial cases, 137 absMarfan syndrome: fibrillin expression and microfibrillar

abnormalities in a family with predominant ocular defects, 1Screening of Marfan syndrome patients for mutations in the

fibrillin (FBN1) gene, 137 absFibrinogen levels, The association of combined ot and f

fibrinogen genotype on plasma fibrinogen levels in smokers andnon-smokers, 585

Fillippi syndrome, Filippi syndrome: a new case with skeletalabnormalities, 659

Finland, Phenylketonuria in a low incidence population:molecular characterisation of mutations in Finland, 976

Fluorescence in situ hybridisationDetection of hemizygosity at the elastin locus by FISH analysis

as a diagnostic test in both classical and atypical cases ofWilliams syndrome, 692

FISH analysis on spontaneously arising micronuclei in the ICFsyndrome, 502

Recurrence of DiGeorge syndrome: prenatal detection by FISHof a molecular 22ql 1 deletion, 657

FMR1 gene mutation, General overgrowth in the fragile Xsyndrome: variability in the phenotypic expression of the FRM1gene mutation, 764

FMR1 triplet arrays, FMR1 triplet arrays: paying the price forperfection: review article, 761

Fragile XA rapid, non-radioactive screening test for fragile X mutations

at the FRAXA and FRAXE loci, 170FRAXE and mental retardation, 162

1010

Subject index

Fragile X A and E mutations, Screening for the fragile X Aand E mutations by automated fluorescent analysis, 153 ptr

Fragile X syndromeFMR1 triplet arrays: paying the price for perfection: review

article, 761Fragile X syndrome is less common than previously estimated,

144 absGeneral overgrowth in the fragile X syndrome: variability in the

phenotypic expression of the FRM1 gene mutation, 764Instability of the CGG repeat at the FRAXA locus and variable

phenotypic expression in a large fragile X pedigree, 907Molecular DNA testing of a family manifesting fragile Xsyndrome in both the fraX-A full mutation and mosaic forms,153 ptr

The use of molecular DNA testing to distinguish betweenmutations at the fragile X-A and -E sites, 154 ptr

Unusual (CGG)n expansion and recombination in a family withfragile X and DiGeorge syndrome, 236

X inactivation of the FMR1 fragile X mental retardation gene,925

FRAXA and FRAXE, A rapid, non-radioactive screening testfor fragile X mutations at the FRAXA and FRAXE loci, 170

FRAXA locus, Instability of the CGG repeat at the FRAXAlocus and variable phenotypic expression in a large fragile Xpedigree, 907

FRAXE, FRAXE and mental retardation, 162Frozen blood, Modification of standard proteinase K/phenolmethod for DNA isolation to improve yield and purity fromfrozen blood, 129

FSHD, Exclusion mapping of chromosomal regions which crosshybridise to FSHD1A associated markers in FSHD1B, 770

GG positive band, Rare variants of chromosome 9 with extra G

positive band within the qh region are not alike: letter, 405Gastric carcinoma, An extended Li-Fraumeni kindred with

gastric carcinoma and a codon 175 mutation in TP53, 942Gaucher's disease, Unusual expression of Gaucher's disease:

cardiovascular calcifications in three sibs homozygous for theD409H mutation, 740

Gene patenting, Gene patenting: a historical review, 141 absGene therapy, Public attitudes towards the selection of desirable

characteristics in children, 796Genealogical guide, Ophthalmic genetics: a genealogical guide

to sources in England and Wales, 946General practitioners

General practitioners' expectations ofthe clinical genetics servicein two districts in the West Midlands, 140 abs

What do general practitioners expect from the clinical geneticservice? 150 ptr

Generalised resistance to thyroid hormone, Phenotypicvariability in patients with generalised resistance to thyroidhormone, 393

Genetic counsellingDirect molecular analysis of myotonic dystrophy in the German

population: important considerations in genetic counselling,645

Genetic counselling problems in families with multiplehaemostatic disorders, 140 abs

The impact of genetic counselling on risk perception in womenwith a family history of breast cancer, 139 abs

Genetic disease, Research in canine and human genetic disease:conference report, 751

Genetic disorders, Congenital anomalies and genetic disordersin families of children with central nervous system tumours,627

Genetic Interest GroupGIG response to the UK Clinical Genetics Society report "The

genetic testing of children": letter, 490Response to GIG's response to theUK Clinical Genetics Society

report "The genetic testing of children": letter, 838The genetic testing of children: letter, 492

Genetic linkage, Phenotypic variability in patients withgeneralised resistance to thyroid hormone, 393

Genetic linkage analysisGenetic linkage analysis in hereditary non-polyposis colon

cancer syndrome, 352Linkage analysis of a large pedigree with hereditary sideroblastic

anaemia, 389Genetic risk information, Adolescents' opinions about genetic

risk information, prenatal diagnosis, and pregnancy termination,799: comment, 805: letter, 836

Genetic testingCurrent issues of personnel and laboratory practices in genetic

testing, 780Genetic testing for cancer predisposition: need and demand:

annotation, 161GIG response to the UK Clinical Genetics Society report "The

genetic testing of children": letter, 490Response to GIG's response to theUK Clinical Genetics Society

report "The genetic testing of children": letter, 838The genetic testing of children: letter, 492

Genital anomalies, An autosomal recessive syndrome of cleftpalate, cardiac defect, genital anomalies, and ectrodactyly(CCGE), 72

German population, Direct molecular analysis of myotonicdystrophy in the German population: important considerationsin genetic counselling, 645

Germinal mosaics, Recurrence risk for germinal mosaicsrevisited, 102

GIGGIG response to the UK Clinical Genetics Society report "The

genetic testing of children": letters, 490, 838The genetic testing of children: letter, 492

Glucocorticoid remediable aldosteronism, Description of twofamilies in the north east of Scotland with glucocorticoidremediable aldosteronism, 137 abs

Glycogen storage disease type II, Glycogen storage diseasetype II: frequency of three common mutant alleles and theirassociated clinical phenotypes studied in 121 patients: letter, 836

Gonadal mosaicism, Gonadal mosaicism for incontinentiapigmenti in a healthy male, 887

Gonadotrophin independent precocious puberty,Identification of constitutively activating mutation of theluteinising hormone receptor in a family with male limitedgonadotrophin independent precocious puberty (testotoxicosis),553

Grandparent transmission, Influence of the sex of thetransmitting grandparent in congenital myotonic dystrophy, 689

Grebe syndrome, Grebe syndrome: a very severely affected case:letter, 326

Greece, Deletion patterns of Duchenne and Becker musculardystrophies in Greece, 48

Growth failure, Prenatal and postnatal growth failure associatedwith maternal heterodisomy for chromosome 7, 871

Growth gene(s), Chromosomal localisation of a Y specific growthgene(s), 572

Growth hormone treatment, Good growth response to growthhormone treatment in the ring chromosome 15 syndrome, 486

HH714Q mutation, H714Q mutation in Wilson disease is

associated with late, neurological presentation, 480Haemochromatosis

Allelic associations and homozygosity at loci from HLA-B toD6S299 in genetic haemochromatosis, 446

International workshop on molecular genetics ofhaemochromatosis, held at Villa Feltrinelli, Gargnano (Bs),Italy, 25 September 1994: conference report, 320

Haemophilia, Genetic counselling problems in families withmultiple haemostatic disorders, 140 abs

Haemophilia AExtending availability of haemophilia A carrier detection to all

families with haemophilia, 152 ptrInversions in the factor VIII gene: improvement of carrier

detection and prenatal diagnosis in Dutch haemophilia Afamilies, 296

Prenatal diagnosis of haemophilia A by analysis of factor VIIIintron 22 inversions, 152 ptr

Haemostatic disorders, Genetic counselling problems infamilies with multiple haemostatic disorders, 140 abs

Hamartomas, Hamartomas from patients with tuberous sclerosisshow loss of heterozygosity for chromosome 9q34, 152 ptr

Haploinsufficiency syndrome, Brachydactyly and mentalretardation: a new haploinsufficiency syndrome, 144 abs

Haplotype analysis, Haplotype analysis in autosomal dominantpolycystic kidney disease, 208

HD gene, Sequence analysis of the CCG polymorphic regionadjacent to the CAG triplet repeat of the HD gene in normaland HD chromosomes, 399

Headache, Cluster headache is an autosomal dominantlyinherited disorder in some families: a complex segregationanalysis, 954

1011

Subject index

Hemihypertrophy, Right upper limb bud triplication andpolythelia, left sided hemihypertrophy and congenital hipdislocation, facial dysmorphism, congenital heart disease, andscoliosis: disorganisation-like spectrum or patterning genedefect?, 555

Hereditary myopathy, Hereditary myopathy with lactic acidosis,succinate dehydrogenase and aconitase deficiency in northernSweden: a genealogical study, 344

Hereditary non-polyposis colon cancer, Detection of newmutations in six out of 10 Swiss HNPCC families by genomicsequencing of the hMSH2 and hMLHl genes, 909

Hereditary non-polyposis colorectal cancer syndrome,Molecular genetic analysis ofhereditary non-polyposis colorectalcancer syndrome, 146 ptr

Heterochromatin behaviour, Difference in constitutiveheterochromatin behaviour between human amniocytes andlymphocytes detected by a sequential in situ exonuclease IIIdigestion-random primer extension procedure, 32

Heterodisomy 7, Prenatal and postnatal growth failure associatedwith maternal heterodisomy for chromosome 7, 871

Heterogeneity, Possible genetic heterogeneity inhypochondroplasia: letter, 492

Hirschsprung disease, Mutations of the RET proto-oncogenein the multiple endocrine neoplasia type 2 syndromes andHirschsprung disease, 135 abs

HLA-B27, HIA-B27 and spondyloarthropathy: value for earlydiagnosis? review article, 497

HLA-B - D6S299 loci, Allelic associations and homozygosity atloci from HLA-B to D6S299 in genetic haemochromatosis, 446

hMSH2 and hMLH1 genes, Detection of new mutations in sixout of 10 Swiss HNPCC families by genomic sequencing of thehMSH2 and hMLHl genes, 909

Homeobox genes, Evaluation of candidate genes for familialbrachydactyly, 851

Homeogene, Association study with two markers of a humanhomeogene in infantile autism, 269

HSAS, Mutations in Li-CAM in two families with X linkedcomplicated spastic paraplegia, MASA syndrome, and HSAS,549

Human Genetic and Chromosome Abnormality Register,The Human Genetic and Chromosome Abnormality Register,139 abs

Humeroradioulnar synostosis, Further report of a patient withhumeroradioulnar synostosis and hydronephrosis: letter, 78

Huntingtin gene, Analysis of triplet repeats in the huntingtingene in Japanese families affected with Huntington's disease,701

Huntington's diseaseA comparison of the Huntington's disease associated

trinucleotide repeat between Chinese and white populations:letter, 404

Analysis of triplet repeats in the huntingtin gene in Japanesefamilies affected with Huntington's disease, 701

Cognitive performance in UK sample ofpresymptomatic peoplecarrying the gene for Huntington's disease, 358

Direct mutation analysis for Huntington's disease: the Oxfordexperience, 148 ptr

DNA analysis of Huntington's disease in southern Chinese, 120Emotional and functional impact of DNA testing on patients

with symptoms of Huntington's disease, 516Epidemiology of Huntington's disease in Northern Ireland, 524Huntington's disease in Saudi Arabia: letter, 325Mutational bias provides a model for the evolution of

Huntington's disease and predicts a general increase in diseaseprevalence, 142 abs

Phenotype-genotype correlations in Huntington's diseasepatients in Northern Ireland and the Republic of Ireland, 147ptr

Prenatal exclusion test for Huntington's disease: experience inthe west of Scotland, 1986-1993, 97

Prenatal exclusion test of a Wolf-Hirschhorn family using PCRamplification with Huntington's disease primers, 149 ptr

Sequence analysis of the CCG polymorphic region adjacent tothe CAG triplet repeat of the HD gene in normal and HDchromosomes, 399

Huntington's disease carriers, Neuropsychologicalcharacteristics of Huntington's disease carriers: a double blindstudy, 600

HydrocephalusLi mutation screening: identification of a non-conservative

missense mutation that does not segregate with hydrocephalusin one family, 149 ptr

Prenatal diagnosis ofX linked hydrocephalus, 144 abs

Hydronephrosis, Further report of a patient withhumeroradioulnar synostosis and hydronephrosis: letter, 78

Hypertrophic cardiomyopathyPoint mutation of the mitochondrial tRNALeu gene (A 3243G) in maternally inherited hypertrophic cardiomyopathy,diabetes mellitus, renal failure, and sensorineural deafness,654

The COX8 gene is not the disease gene of the CMH4 locus infamilial hypertrophic cardiomyopathy: letter, 670

Hypocalciuric hypercalcaemia, Linkage studies in a kindredfrom Oklahoma with familial benign hypocalciurichypercalcaemia (FBH) indicate genetic heterogeneity and athird locus for FBH, 152 ptr

Hypochondroplasia, Possible genetic heterogeneity inhypochondroplasia: letter, 492

Hypokalaemic periodic paralysis, Mutation in DHP receptoroc-I subunit (CACLNiA3) gene in a Dutch family withhypokalaemic periodic paralysis, 44

Hypomelanosis of ItoFunctional disomy of a locus (loci) in Xp and hypomelanosis

of Ito, 138 absMonozygotic twins discordant for hypomelanosis of Ito, 148 ptr

Hypoparathyroidism, Idiopathic hypoparathyroidism in twopatients with 22qll microdeletion: letter, 669

IICF syndrome, FISH analysis on spontaneously arising

micronuclei in the ICF syndrome, 502Idiopathic dilated cardiomyopathy, Exclusion of a primary

gene defect at the HLA locus in familial idiopathic dilatedcardiomyopathy, 876

IgE levels, Association between high serum total IgE levels andD 1 1S97 on chromosome 1 1ql3 in Japanese subjects, 363

Immune deficiency, Male neonatal death and progressiveweakness and immune deficiency in females: an unknown Xlinked condition, 191

Immunohistochemistry, Heterogeneity in Li-Fraumeni families:p53 mutation analysis and immunohistochemical staining, 186

Imprinting, Possible role of imprinting in the Turner phenotype,138 abs

Incontinentia pigmenti, Gonadal mosaicism for incontinentiapigmenti in a healthy male, 887

Interferon gene cluster, A gene for familial venousmalformations maps to chromosome 9p in a second largekindred, 197

Intrauterine growth retardation, Severe intrauterine growthretardation with increased mitomycin C sensitivity: a furtherchromosome breakage syndrome, 301: letter, 998

Irish cystic fibrosis database, The Irish cystic fibrosis database,972

Isochromosome 18 formation, Prenatal detection of short armdeletion and isochromosome 18 formation investigated bymolecular techniques, 991

JJapanese

Analysis of triplet repeats in the huntingtin gene in Japanesefamilies affected with Huntington's disease, 701

Association between high serum total IgE levels and DIlS97on chromosome llqi 3 in Japanese subjects, 363

Autosomal dominant retinitis pigmentosa locus on chromosomei9q in a Japanese family, 915

Spinocerebellar ataxia 1 (SCAI) in the Japanese in Hokkaidomay derive from a single common ancestry, 590

Joint contractures, A new autosomal recessive syndrome ofcharacteristic facies, joint contractures, skeletal abnormalities,and normal development: second report with further clinicaldelineation, 809

Journal abstracts, 75, 156, 324, 403, 576, 666, 755, 835, 917,996

Journal of Medical Genetics, Editorial postscript: 10 years ofchange and evolution, 329

KKabuki syndrome, Kabuki syndrome-like features in

monozygotic twin boys with a pseudodicentric chromosome 13,227

Kallmann syndrome, Kallmann syndrome in a boy with a t(l;10) translocation detected by reverse chromosome painting, 957

1012

Subject index

Keratosis follicularis spinulosa decalvans, Refinement of thelocalisation of the X linked keratosis follicularis spinulosadecalvans (KFSD) gene in Xp22.13-p22.2, 736

Knee dislocation, Congenital knee dislocation in a 49,XXXXYboy, 309

LLI-CAM, Mutations in LI-CAM in two families with X linked

complicated spastic paraplegia, MASA syndrome, and HSAS,549

Laboratory practices, Current issues ofpersonnel and laboratorypractices in genetic testing, 780

Lactic acidosis, Hereditary myopathy with lactic acidosis,succinate dehydrogenase and aconitase deficiency in northernSweden: a genealogical study, 344

Lattice corneal dystrophy type I, Genetic refinement of thechromosome 5q lattice corneal dystrophy type I locus to withina 2 cM interval, 224

Leber's hereditary optic neuropathy, Leber's hereditary opticneuropathy: the clinical relevance of different mitochondrialDNA mutations: review article, 81

Lethal congenital contracture syndrome, Lethal congenitalcontracture syndrome (LCCS), a fetal anterior horn cell disease,is not linked to the SMA 5q locus, 36

Leukaemia, Leukaemia and Sellafield: is there a heritable link?review article, 251: letter, 997

Li-Fraumeni syndromeAn extended Li-Fraumeni kindred with gastric carcinoma and

a codon 175 mutation in TP53, 942Heterogeneity in Li-Fraumeni families: p53 mutation analysisand immunohistochemical staining, 186

Limb-girdle muscular dystrophy, Estimate ofsevere autosomalrecessive limb-girdle muscular dystrophy (LGMD2C,LGMD2D) among sporadic muscular dystrophy males: a studyof 415 families, 930

Lindenbaum syndrome, Male neonatal death and progressiveweakness and immune deficiency in females: an unknown Xlinked condition, 191

Linkage refinement, Linkage refinement localises Sorsby fundusdystrophy between markers D22S275 and D22S278, 240

Lissencephaly, Detecting deletions in the critical region forlissencephaly on 17pl3.3 using fluorescent in situ hybridisationand a PCR assay identifying a dinucleotide repeatpolymorphism, 275

Low density lipoprotein receptor, The impact of mutations inrepeat 5 of the ligand binding domain of the LDL receptor onthe clinical phenotype of familial hypercholesterolaemia, 137abs

Low density lipoprotein receptor geneScreening for mutations in exon 4 of the I-DL receptor gene:

identification of a new deletion mutation, 379Utilities for high throughput use of the single stand

conformational polymorphism method: screening of 791patients with familial hypercholesterolaemia for mutations inexon 3 of the low density lipoprotein receptor gene, 509

Luteinising hormone receptor, Identification of constitutivelyactivating mutation of the luteinising hormone receptor in afamily with male limited gonadotrophin independent precociouspuberty (testotoxicosis), 553

Lymphocytes, Difference in constitutive heterochromatinbehaviour between human amniocytes and lymphocytesdetected by a sequential in situ exonuclease III digestion-randomprimer extension procedure, 32

Lymphocytosis, The Aicardi-Goutieres syndrome (familial, earlyonset encephalopathy with calcifications of the basal gangliaand chronic cerebrospinal fluid lymphocytosis): syndrome of themonth, 881

Lymphoproliferative disease, Prenatal diagnosis of X linkedlymphoproliferative disease using multiplex polymerase chainreaction: letter, 756

MMachado-Joseph disease

Characterisation of the unstable expanded CAG repeat in theMJD1 gene in four Brazilian families of Portuguese descentwith Machado-Joseph disease, 827

Machado Joseph disease maps to the same region ofchromosome 14 as the spinocerebellar ataxia type 3 locus, 25

McKusick-Kaufmann syndrome, Pallister-Hall syndrome andMcKusick-Kaufmann syndrome: one entity? 125: letter, 668

McKusick type metaphyseal chondrodysplasia, Cartilage-hairhypoplasia: syndrome of the month, 39

Macular dystrophy, Evidence for genetic heterogeneity in Best'svitelliform macular dystrophy, 855

Male limitation, Identification of constitutively activatingmutation of the luteinising hormone receptor in a family withmale limited gonadotrophin independent precocious puberty(testotoxicosis), 553

Male neonatal death, Male neonatal death and progressiveweakness and immune deficiency in females: an unknown Xlinked condition, 191

Male sexual differentiation, The role of the androgen receptorin male sexual differentiation, 135 abs

Malignant hyperthermiaDetection of mutations in the RYRI gene in malignant

hyperthermia susceptible persons, 155 ptrExclusion of defects in the skeletal muscle specific regions

of the DHPR ocl subunit as frequent causes of malignanthyperthermia, 913

Maltese kindred, Evidence for exclusion of a mutation inNRAMP as the cause of familial disseminated atypicalmycobacterial infection in a Maltese kindred, 904

Marfan syndromeA null allele phenotype in a severely affected Marfan syndrome

patient with reduced levels of fibrillin, 154 ptrMarfan syndrome: fibrillin expression and microfibrillar

abnormnalities in familial cases, 137 absMarfan syndrome: fibrillin expression and microfibrillar

abnormalities in a family with predominant ocular defects, 1Marfan's syndrome: aortic distensibility (measured by MRI)and family phenotype, 149 ptr

Screening of Marfan syndrome patients for mutations in thefibrillin (FBN1) gene, 137 abs

MASA syndrome, Mutations in LI-CAM in two families withX linked complicated spastic paraplegia, MASA syndrome, andHSAS, 549

Maternal celi contamination, Detection of maternal cellcontamination in amniotic fluid cell cultures using fluorescentlabelled microsatellites, 61

Medical genetics: advances in brief, 75, 156, 324, 403, 576,666, 755, 835, 917, 996

Medullary thyroid carcinoma, Molecular analysis ofMEN-2Aand sporadic MTC tumours in the north east of Scotland, 147ptr

Menkes disease, Menkes disease: syndrome of the month, 213Mental retardation

Brachydactyly and mental retardation: a new haploinsufficiencysyndrome, 144 abs

FRAXE and mental retardation, 162Metachromatic leucodystrophy, Metachromatic

leucodystrophy (MLD) in a patient with a constitutional ringchromosome 22, 787

Methylation studies, Comparison of microsatellite andmethylation studies for the diagnosis of Prader-Willi andAngelman syndrome, 154 ptr

Microcephalic osteodysplastic primordial dwarfism, Renaltubular leakage complicating microcephalic osteodysplasticprimordial dwarfism, 234

Microcornea-cataract syndrome, An unusual pedigree withmicrocornea-cataract syndrome, 813

Microdeletion, Idiopathic hypoparathyroidism in two patientswith 22q1 1 microdeletion: letter, 669

Microfibrillar abnormalities, Marfan syndrome: fibrillinexpression and microfibrillar abnormalities in familial cases, 137abs

Micrognathia, Anophthalmia with cleft palate and micrognathia:a new syndrome or an unusual presentation of Rubinstein-Taybisyndrome? letter, 668

MicronucleiChromosome painting of radiation induced micronuclei, 139

absFISH analysis on spontaneously arising micronuclei in the ICF

syndrome, 502Microphthalmos, Autosomal dominant simple microphthalmos:

incomplete penetrance and variable expression in a largefamily: letter, 326

MicrosatellitesAssignment of microsatellite sequences to the region duplicated

in CMT1A (17pl2): a useful tool for diagnosis, 231Comparison of microsatellite and methylation studies for the

diagnosis of Prader-Willi and Angelman syndrome, 154 ptr

1013

Subject index

Detection of maternal cell contamination in amniotic fluid cellcultures using fluorescent labelled microsatellites, 61

Microsatellite instability in squamous cell carcinoma of the headand neck, 143 abs

Use of microsatellite markers in monitoring the progressionof bone marrow grafts in patients with severe combinedimmunodeficiency syndrome, 154 ptr

Microtia-anotia, Epidemiology and genetics of microtia-anotia:a registry based study on over one million births, 453

Miller-Dieker syndrome, Detecting deletions in the criticalregion for lissencephaly on 17pl3.3 using fluorescent in situhybridisation and a PCR assay identifying a dinucleotide repeat

polymorphism, 275Mitochondrial disease, Mitochondrial disease, 135 absMitochondrial DNA, Mitochondrial DNA does not appear to

influence the congenital onset type of myotonic dystrophy, 732Mitochondrial DNA mutations, Leber's hereditary optic

neuropathy: the clinical relevance of different mitochondrialDNA mutations: review article, 81

Mitochondrial genetics, Nuclear and mitochondrial genetics inParkinson's disease: review article, 411

Mitochondrial tRNALeu gene (A 3243 G), Point mutation ofthe mitochondrial tRNALeu gene (A 3243 G) in maternallyinherited hypertrophic cardiomyopathy, diabetes mellitus, renalfailure, and sensorineural deafness, 654

Mitomycin C sensitivity, Severe intrauterine growth retardationwith increased mitomycin C sensitivity: a further chromosomebreakage syndrome, 301: letter, 998

Mohr-Tranebja:rg syndrome, A newX linked recessive deafnesssyndrome with blindness, dystonia, fractures, and mentaldeficiency is linked to Xq22, 257

Molecular diagnosis, Familial pancreatic adenocarcinoma:association with diabetes and early molecular diagnosis, 330

Motor neurone disease, Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current

developments, 841Mouse models

Dissecting human genetic disease through mouse models, 136abs

Mouse model systems and their use in the design of gene

therapy, 136 absMTS1 (pl6) tumour suppressor gene, A gene for familialvenous malformations maps to chromosome 9p in a secondlarge kindred, 197

Multi-infarct dementia, Hereditary multi-infarct dementiaunlinked to chromosome l9q12 in a large Scottish pedigree:evidence of probable locus heterogeneity, 57

Multifocal renal cell carcinoma, Multifocal renal cell carcinomain sibs from a chromosome 9 linked (TSC 1) tuberous sclerosisfamily, 848

Multiple congenital anomaly syndrome, A new autosomalrecessive syndrome of characteristic facies, joint contractures,skeletal abnormalities, and normal development: second reportwith further clinical delineation, 809

Multiple endocrine neoplasia, Molecular analysis of MEN-2Aand sporadic MTC tumours in the north east of Scotland, 147ptr

Multiple endocrine neoplasia type 2, Mutations of the RETproto-oncogene in the multiple endocrine neoplasia type 2syndromes and Hirschsprung disease, 135 abs

MURCS, MURCS in a male? 314: letter, 919Muscular dystrophy, Estimate of severe autosomal recessive

limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among

sporadic muscular dystrophy males: a study of 415 families, 930MutEx assay, Detection of "unknown" mutations using theMutEx assay, 141 abs

Mycobacterial infection, Evidence for exclusion of a mutationin NRAMP as the cause of familial disseminated atypicalmycobacterial infection in a Maltese kindred, 904

Myotonic dystrophyAre cataract patients at high risk of being minimal DM gene

carriers? 151 ptrAscertainment of myotonic dystrophy through cataract by

selective screening, 144 abs, 519Comparison of CTG repeat length expansion and clinical

progression of myotonic dystrophy over a five year period,593

Contribution of molecular analyses to the estimation of the riskof congenital myotonic dystrophy, 105

Direct molecular analysis of myotonic dystrophy in the Germanpopulation: important considerations in genetic counselling,645

Evidence for meiotic drive at the myotonic dystrophy locus, 145ptr

Influence ofthe sex ofthe transmitting grandparent in congenitalmyotonic dystrophy, 689

Instability of a normal (CTG)n allele in the DM kinase gene,151 ptr

Mitochondrial DNA does not appear to influence the congenitalonset type of myotonic dystrophy, 732

Myotonic dystrophy: genetic, clinical, and molecular analysisof patients from 41 Brazilian families, 14

Report on MDA Workshop on Myotonic Dystrophy, 10 October1994, Montreal, Quebec, Canada, 662

Myotubular myopathies, The myotubular myopathies:differential diagnosis of the X linked recessive, autosomaldominant, and autosomal recessive forms and present state ofDNA studies: review article, 673

NNail dysplasia syndrome, Anonychia and absence/hypoplasia of

distal phalanges (Cooks syndrome): report of a second family,638

Natural resistance associated macrophage protein, Evidencefor exclusion of a mutation in NRAMP as the cause of familialdisseminated atypical mycobacterial infection in a Maltesekindred, 904

Nematode worm, The Caenorhabditis elegans approach to genomeanalysis, 136 abs

The Netherlands, Mutation in DHP receptor a- 1 subunit(CACLN1A3) gene in a Dutch family with hypokalaemicperiodic paralysis, 44

Neural crest function, Chromosome 1 3q deletion withWaardenburg syndrome: further evidence for a gene involvedin neural crest function on 13q, 531

Neural tube defectsA frameshift mutation in the gene for PAX3 in a girl with spina

bifida and mild signs of Waardenburg syndrome, 52Absence of linkage between familial neural tube defects andPAX3 gene, 200

Further evidence for an intermittent pattern of neural tubeclosure in humans, 205

Neuroectodermal (CHIME) syndrome, Neuroectodermal(CHIME) syndrome: an additional case with long term followup of all reported cases, 465

NeurofibromatosisDiagnostic issues in a family with late onset type 2

neurofibromatosis, 470Encephalocraniocutaneous lipomatosis with a mutation in theNFl gene, 316

Familial cafe au lait spots: a variant of neurofibromatosis type1, 985

Psychological aspects of von Recklinghausen neurofibromatosis(NFl): review article, 921

Neurofibromatosis type 1 geneCharacterisation ofgermline mutations in the neurofibromatosis

type 1 (NF1) gene, 706Characterisation ofa nonsense mutation and a two base insertion

in exon 42 of the neurofibromatosis type 1 gene, 153 ptrNeurofibromatosis type 2, Mutation screening and genotype-

phenotype correlation in NF2 patients, 138 absNeuropsychological characteristics, Neuropsychological

characteristics of Huntington's disease carriers: a double blindstudy, 600

New syndrome, A new autosomal recessive syndrome ofcharacteristic facies, joint contractures, skeletal abnormalities,and normal development: second report with further clinicaldelineation, 809

Newborn screening, The impact of newborn screening on cysticfibrosis testing in Victoria, Australia, 537

NF1 gene, Encephalocraniocutaneous lipomatosis with amutation in the NF1 gene, 316

Night blindness, Duchenne muscular dystrophy: negativeelectroretinograms and normal dark adaptation. Reappraisal ofassignment of X linked incomplete congenital stationary nightblindness, 348

Nijmegen breakage syndrome, The Nijmegen breakagesyndrome is not an allelic form of ataxia telangiectasia, 149 ptr

Non-disjunction, Double non-disjunction in maternal meiosis IIgiving rise to a fetus with 48,XXX, + 21, 650

1014

Subject index

Non-polyposis colon cancer, Detection of new mutations in sixout of 10 Swiss HNPCC families by genomic sequencing of thehMSH2 and hMLHl genes, 909

Non-polyposis colon cancer syndrome, Genetic linkageanalysis in hereditary non-polyposis colon cancer syndrome,352

Non-smokers, The association of combined oa and i fibrinogengenotype on plasma fibrinogen levels in smokers and non-smokers, 585

Noonan syndromeIncreased infections associated with immunological

abnormalities in Noonan syndrome, 147 ptrMapping a gene for Noonan syndrome to the long arm ofchromosome 12, 143 abs

Vaginal rhabdomyosarcoma in a patient with Noonan syndrome,743

Northern Ireland, The epidemiology of Huntington's disease inNorthern Ireland, 524

Notices, 160, 328, 672, 760, 920NRAMP, Evidence for exclusion of a mutation in NRAMP as the

cause of familial disseminated atypical mycobacterial infectionin a Maltese kindred, 904

Nuclear genetics, Nuclear and mitochondrial genetics inParkinson's disease: review article, 411

Null allele, Genomic rearrangements in childhood spinalmuscular atrophy: linkage disequilibrium with a null allele, 93

0

Ocular defects, Marfan syndrome: fibrillin expression andmicrofibrillar abnormalities in a family with predominant oculardefects, 1

Oculocutaneous albinism, Oculocutaneous albinism amongschoolchildren in Harare, Zimbabwe, 859

Oesophageal cancer, Mapping of the tylosis cancer gene in a

Liverpool pedigree with palmoplantar keratoderma andoesophageal cancer, 143 abs

Oguchi disease, Oguchi disease: suggestion of linkage to markerson chromosome 2q, 396

Ophthalmic genetics, Ophthalmic genetics: a genealogical guideto sources in England and Wales, 946

Optic atrophy, No evidence of genetic heterogeneity in dominantoptic atrophy, 951

Ornithine transcarbamylase deficiency, The molecular basisof omithine transcarbamylase deficiency: modelling the humanenzyme and the effects of mutations, 680

Osteogenesis imperfecta, Perinatal lethal osteogenesisimperfecta: syndrome of the month, 284

Osteogenesis imperfecta type I, Absence of mutations in thepromoter of the COLlAl gene of type I collagen in patientswith osteogenesis imperfecta type I, 697

Otofaciocervical syndrome, Otofaciocervical syndrome: a

sporadic patient supports splitting from the branchio-oto-renalsyndrome, 816

Ovarian cancer

Experience of familial ovarian cancer in Aberdeen, 145 ptrFactors influencing decisions on whether to proceed with

predictive testing for breast/ovarian cancers, 140 absUse of linked markers in breast/ovarian cancer families, 145 ptr

pp53 mutation analysis, Heterogeneity in Li-Fraumeni families:

p53 mutation analysis and immunohistochemical staining,186

Pallister-Hall syndromePallister-Hall syndrome and McKusick-Kaufmann syndrome:one entity? 125: letter, 668

Stringent delineation of Pallister-Hall syndrome in two longsurviving patients: importance of radiological anomalies ofthe hands, 605

Pallister-Killian syndrome, Pallister-Killian syndrome: normalkaryotype in prenatal chorionic villi, in postnatal lymphocytes,and in slowly growing epidermal cells, but mosaic tetrasomy12p in skin fibroblasts, 68

Palmoplantar keratoderma, Mapping of the tylosis cancer genein a Liverpool pedigree with palmoplantar keratoderma andoesophageal cancer, 143 abs

Pancreatic adenocarcinoma, Familial pancreaticadenocarcinoma: association with diabetes and early moleculardiagnosis, 330

Parkinson's disease, Nuclear and mitochondrial genetics inParkinson's disease: review article, 411

Partial disomy of Xp, Partial disomy ofXp and the presence ofSRY in a phenotypic female, 987

Partial monosomy, Short stature in a girl with partial monosomyof the pseudoautosomal region distal to DXYS 15: furtherevidence for the assignment of the critical region for apseudoautosomal growth gene(s), 831

Partial proximal trisomy lOq syndrome, Further delineationof the partial proximal trisomy lOq syndrome, 968

Partial trisomy 22, Partial trisomy 22 (qI 1.2-q13. 1) as a resultof duplication and pericentric inversion, 306

Partial trisomy 3q, Partial trisomy 3q and the mild Cornelia deLange syndrome phenotype: letter, 837

Partial trisomy 8p, Familial partial trisomy 8p withoutdysmorphic features and only mild mental retardation, 792

PAX3 geneA frameshift mutation in the gene for PAX3 in a girl with spina

bifida and mild signs of Waardenburg syndrome, 52Absence of linkage between familial neural tube defects andPAX3 gene, 200

PAX6 mutation, A new PAX6 mutation in familial aniridia, 488Pax 3 loci, Exclusion of RET and Pax 3 loci in Waardenburg-

Hirschsprung disease, 312Perinatal lethal osteogenesis imperfecta, Perinatal lethal

osteogenesis imperfecta: syndrome of the month, 284Peroxisomal matrix protein, Characterisation of a gene

encoding a novel peroxisomal matrix protein, PXEL, 141 absPfeiffer type cardiocranial syndrome, Pfeiffer type

cardiocranial syndrome: a third case report, 901Phaeochromocytoma

Molecular genetic diagnosis of von Hippel-Lindau disease infamilial phaeochromocytoma, 885

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic andsyndromic phaeochromocytomas, 934

PhenylketonuriaComparison of genotype and phenotype in Northern IrelandPKU patients homozygous for the mutations R408W, I65T,and R408Q, 147 ptr

Discordant phenylketonuria phenotypes in one family: therelationship between genotype and clinical outcome is afunction of multiple effects, 867

Phenylketonuria in a low incidence population: molecularcharacterisation of mutations in Finland, 976

The population genetics ofphenylketonuria in Northern Ireland,143 abs

Polycystic kidney diseaseA family with autosomal dominant polycystic kidney disease

linked to 4q21-23: letter, 493An evaluation of sonographic diagnostic criteria for autosomaldominant polycystic kidney disease 1, 150 ptr

DNA microsatellite analysis of families with autosomaldominant polycystic kidney disease types 1 and 2: evaluationof clinical heterogeneity between both forms of the disease,442

Haplotype analysis in autosomal dominant polycystic kidneydisease, 208

Polydactyly, Absence/hypoplasia of tibia, polydactyly,retrocerebellar arachnoid cyst, and other anomalies: anautosomal recessive disorder, 896

Polymerase chain reactionCholinesterase variants: rapid characterisation by PCR/SSCPand evidence for molecular homogeneity, 109

Detection of germline mutations in the von Hippel-Lindaudisease gene by the primer specified restriction mapmodification method, 938

Prenatal diagnosis ofX linked lymphoproliferative disease usingmultiplex polymerase chain reaction: letter, 756

Prenatal exclusion test of a Wolf-Hirschhom family using PCRamplification with Huntington's disease primers, 149 ptr

Rapid detection of rare variants and common polymorphismsin the APC gene by PCR-SSCP for presymptomatic diagnosisand showing allele loss, 568

Polythelia, Right upper limb bud triplication and polythelia, leftsided hemihypertrophy and congenital hip dislocation, facialdysmorphism, congenital heart disease, and scoliosis:disorganisation-like spectrum or patterning gene defect?, 555

Porphobilinogen deaminase geneFour mutations in the porphobilinogen deaminase gene in

patients with acute intermittent porphyria, 979

1015

Subject index

Identification of three mutations in the porphobilinogendeaminase gene in four South African patients with acuteintermittent porphyria, 141 abs

PorphyriaFour mutations in the porphobilinogen deaminase gene in

patients with acute intermittent porphyria, 979Identification of three mutations in the porphobilinogen

deaminase gene in four South African patients with acuteintermittent porphyria, 141 abs

Prader-Willi syndromeA clinical, cytogenetic, and molecular study of 40 adults with

the Prader-Willi syndrome, 181Comparison of microsatellite and methylation studies for the

diagnosis of Prader-Willi and Angelman syndrome, 154 ptrDNA methylation based testing of 450 patients suspected of

having Prader-Willi syndrome, 88Molecular and fluorescence in situ hybridisation (FISH) studies

of supernumerary marker 15 chromosomes, 138 absPrecocious puberty, Identification of constitutively activating

mutation of the luteinising hormone receptor in a family withmale limited gonadotrophin independent precocious puberty(testotoxicosis), 553

Predictive testingAttitudes to predictive testing for BRCA1, 140 absFactors influencing decisions on whether to proceed with

predictive testing for breast/ovarian cancers, 140 absPregnancy termination, Adolescents' opinions about genetic

risk information, prenatal diagnosis, and pregnancytermination, 799: comment, 805: letter, 836

Prenatal detection, Prenatal detection of short arm deletionand isochromosome 18 formation investigated by moleculartechniques, 991

Prenatal diagnosisAdolescents' opinions about genetic risk information, prenatal

diagnosis, and pregnancy termination, 799: comment, 805:letter, 836

One hundred and ninety four prenatal diagnoses for Duchennemuscular dystrophy, 147 ptr

Prenatal diagnosis of haemophilia A by analysis of factor VIIIintron 22 inversions, 152 ptr

Prenatal diagnosis ofX linked hydrocephalus, 144 absPrenatal exclusion test

Prenatal exclusion test for Huntington's disease: experience inthe west of Scotland, 1986-1993, 97

Prenatal exclusion test of a Wolf-Hirschhorn family using PCRamplification with Huntington's disease primers, 149 ptr

Presenile Alzheimer's disease, Apolipoprotein E £4 allele is arisk factor for familial and sporadic presenile Alzheimer's diseasein both homozygote and heterozygote carriers, 642

Progressive weakness, Male neonatal death and progressiveweakness and immune deficiency in females: an unknown Xlinked condition, 191

Protein C deficiency, Population differences in the frequencyof the factor V Leiden variant among people with clinicallysymptomatic protein C deficiency, 543

Proteinase K/phenol method, Modification of standardproteinase K/phenol method for DNA isolation to improve yieldand purity from frozen blood, 129

Proximal myotonic myopathy, PROMM: proximal myotonicmyopathy, a new myotonic disorder, 148 ptr

Pseudoautosomal growth gene(s), Short stature in a girl withpartial monosomy of the pseudoautosomal region distal toDXYS 15: further evidence for the assignment of the criticalregion for a pseudoautosomal growth gene(s), 831

Pseudodicentric chromosome 13, Kabuki syndrome-likefeatures in monozygotic twin boys with a pseudodicentricchromosome 13, 227

PsoriasisA major susceptibility gene for psoriasis maps to 17q in British

families and evidence for genetic heterogeneity, 142 absConfirmation of genetic heterogeneity in familial psoriasis, 546

Psychology, Psychological aspects of von Recklinghausenneurofibromatosis (NFI): review article, 921

Public attitudes, Public attitudes towards the selection ofdesirable characteristics in children, 796

Pulsed field gel electrophoresis, Mutation detection and carrierdiagnosis in Duchenne muscular dystrophy by pulsed field gelelectrophoresis, 142 abs

PXEL, Characterisation of a gene encoding a novel peroxisomalmatrix protein, PXEL, 141 abs

QQuality assurance and control, Current issues ofpersonnel and

laboratory practices in genetic testing, 780

RRadiation induced micronuclei, Chromosome painting of

radiation induced micronuclei, 139 absRB1 gene, Detection of germline mutations in the RB1 gene

using amplification mismatch detection analysis and directsequencing of PCR products, 154 ptr

RB1 germline mutations, Identification of RB1 germlinemutations in Argentinian families with sporadic bilateralretinoblastoma, 475

Recessive dystrophic epidermolysis bullosa, Use of type VIIcollagen gene (COL7A1) markers in prenatal diagnosis ofrecessive dystrophic epidermolysis bullosa, 749

Recurrence risk, Recurrence risk for germinal mosaics revisited,102

Renal cell carcinoma, Multifocal renal cell carcinoma in sibsfrom a chromosome 9 linked (TSC1) tuberous sclerosis family,848

Renal failure, Point mutation of the mitochondrial tRNALeugene (A 3243 G) in maternally inherited hypertrophiccardiomyopathy, diabetes mellitus, renal failure, andsensorineural deafness, 654

Renal involvement, Renal involvement in tuberous sclerosis,144 abs

Renal tubular leakage, Renal tubular leakage complicatingmicrocephalic osteodysplastic primordial dwarfism, 234

Research, Research in canine and human genetic disease:conference report, 751

Restriction endonuclease based tests, Detection of germlinemutations in the von Hippel-Lindau disease gene by the primerspecified restriction map modification method, 938

RET gene, Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease, 312

RET proto-oncogeneMutations ofthe RET proto-oncogene in the multiple endocrine

neoplasia type 2 syndromes and Hirschsprung disease, 135abs

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic andsyndromic phaeochromocytomas, 934

Retinitis pigmentosaAnalysis of rhodopsin splice site mutations in retinitis

pigmentosa, 153 ptrAutosomal dominant retinitis pigmentosa locus on chromosome

19q in a Japanese family, 915Retinoblastoma

Detection of germline mutations in the RB 1 gene usingamplification mismatch detection analysis and directsequencing of PCR products, 154 ptr

Identification ofRB 1 germline mutations in Argentinian familieswith sporadic bilateral retinoblastoma, 475

Molecular pathology of the RB 1 gene in retinoblastoma, breastand bladder tumours, 155 ptr

Retinoic acid receptor, Exclusion of retinoic acid receptor anda cartilage matrix protein in non-syndromic CL(P) families:letter, 78

Retrocerebeliar arachnoid cyst, Absence/hypoplasia of tibia,polydactyly, retrocerebellar arachnoid cyst, and other anomalies:an autosomal recessive disorder, 896

Reverse chromosome painting, Kallmann syndrome in a boywith a t(l; 1O) translocation detected by reverse chromosomepainting, 957

Rhabdomyosarcoma, Vaginal rhabdomyosarcoma in a patientwith Noonan syndrome, 743

Rhodopsin, Analysis of rhodopsin splice site mutations in retinitispigmentosa, 153 ptr

Right upper limb bud triplication, Right upper limb budtriplication and polythelia, left sided hemihypertrophy andcongenital hip dislocation, facial dysmorphism, congenital heartdisease, and scoliosis: disorganisation-like spectrum or

patterning gene defect?, 555Ring chromosomeGood growth response to growth hormone treatment in the ringchromosome 15 syndrome, 486

Molecular cytogenetic characterisation of a small ring Xchromosome in a Turner patient and in a male patient withcongenital abnormalities: role of X inactivation, 113

1016

Subject index

X inactivation studies in patients with Turner's syndrome andring X chromosomes, 153 ptr

Risk factorsCancer families: what risk are they given and do the risks affectmanagement? 139 abs

Identification of women at high genetic risk of breast cancerthrough the National Health Service Breast ScreeningProgramme (NHSBSP), 862

The impact of genetic counselling on risk perception in womenwith a family history of breast cancer, 139 abs

Robertsonian 15115 translocation, A case of Angelmansyndrome arising as a result of a de novo Robertsonian 15/15translocation, 154 ptr

Rubinstein-Taybi syndrome, Anophthalmia with cleft palateand micrognathia: a new syndrome or an unusual presentationof Rubinstein-Taybi syndrome? letter, 668

SSaethre-Chotzen syndrome, Saethre-Chotzen syndrome

associated with balanced translocations involving 7p21: threefurther families, 174

Saudi ArabiaConsanguinity among the Saudi Arabian population, 623Huntington's disease in Saudi Arabia: letter, 325

Schizencephaly, Familial schizencephaly: further delineation ofa rare disorder, 242

Scoliosis, Right upper limb bud triplication and polythelia, leftsided hemihypertrophy and congenital hip dislocation, facialdysmorphism, congenital heart disease, and scoliosis:disorganisation-like spectrum or patterning gene defect?, 555

Scotland, Hereditary multi-infarct dementia unlinked tochromosome 19q12 in a large Scottish pedigree: evidence ofprobable locus heterogeneity, 57

ScreeningAscertainment of myotonic dystrophy through cataract by

selective screening, 144 abs, 519Identification of women at high genetic risk of breast cancer

through the National Health Service Breast ScreeningProgramme (NHSBSP), 862

The impact of newborn screening on cystic fibrosis testing inVictoria, Australia, 537

Segmentation, Molecular analysis of segmentation in vertebratedevelopment, 136 abs

Segregation analysis, Cluster headache is an autosomaldominantly inherited disorder in some families: a complexsegregation analysis, 954

Seliafield, Leukaemia and Sellafield: is there a heritable link?review article, 251: letter, 997

Sensorineural deafness, Point mutation of the mitochondrialtRNALeu gene (A 3243 G) in matemally inherited hypertrophiccardiomyopathy, diabetes mellitus, renal failure, andsensorineural deafness, 654

Severe combined immunodeficiency syndrome, The use ofmicrosatellite markers in monitoring the progression of bonemarrow grafts in patients with severe combinedimmunodeficiency syndrome, 154 ptr

Sex chromosomal gene expression, On the mechanisms of sexchromosomal gene expression with particular reference to Xinactivation, 142 abs

Sex reversal, Partial disomy of Xp and the presence of SRY ina phenotypic female, 987

Shwachman syndrome, Shwachman syndrome associated withde novo reciprocal translocation t(6;12)(q16.2;q21.2), 894

Sideroblastic anaemia, Linkage analysis of a large pedigree withhereditary sideroblastic anaemia, 389

Siemens-i syndrome, Refinement of the localisation of the Xlinked keratosis follicularis spinulosa decalvans (KFSD) genein Xp22.13-p22.2, 736

Signal transduction mechanisms, Cell cycle regulation andsignal transduction mechanisms in yeast: the relevance to humandisease, 136 abs

Single strand conformational polymorphismCholinesterase variants: rapid characterisation by PCR/SSCPand evidence for molecular homogeneity, 109

Rapid detection of rare variants and common polymorphismsin the APC gene by PCR-SSCP for presymptomatic diagnosisand showing allele loss, 568

Screening for rare CF mutations using a joint SSCP/heteroduplex strategy, 141 abs

Utilities for high throughput use of the single strandconformational polymorphism method: screening of 791

patients with familial hypercholesterolaemia for mutations inexon 3 of the low density lipoprotein receptor gene, 509

Skeletal abnormalities, A new autosomal recessive syndromeofcharacteristic facies, joint contractures, skeletal abnormalities,and normal development: second report with further clinicaldelineation, 809

Skeletal muscle, Exclusion of defects in the skeletal musclespecific regions of the DHPR xl subunit as frequent causes ofmalignant hyperthermia, 913

Smokers, The association of combined oa and ,B fibrinogengenotype on plasma fibrinogen levels in smokers and non-smokers, 585

Solid tissue, ACC Solid Tissue Working Party: a progress report,139 abs

Sorsby fundus dystrophy, Linkage refinement localises Sorsbyfundus dystrophy between markers D22S275 and D22S278,240

Spastic paraplegia, Mutations in Li-CAM in two families withX linked complicated spastic paraplegia, MASA syndrome, andHSAS, 549

Spina bifida, A frameshift mutation in the gene for PAX3 in agirl with spina bifida and mild signs ofWaardenburg syndrome,52

Spinal muscular atrophyGenomic rearrangements in childhood spinal muscular atrophy:

linkage disequilibrium with a null allele, 93Lethal congenital contracture syndrome (LCCS), a fetal anteriorhorn cell disease, is not linked to the SMA 5q locus, 36

Neonatal spinal muscular atrophy with diaphragmatic paralysisis unlinked to 5qll.2-ql3, 216

Spinocerebellar ataxia, Machado Joseph disease maps to thesame region of chromosome 14 as the spinocerebellar ataxiatype 3 locus, 25

Spinocerebellar ataxia 1, Spinocerebellar ataxia 1 (SCAl) inthe Japanese in Hokkaido may derive from a single commonancestry, 590

Split handlfoot malformation, Bilateral split hand/footmalformation and inv(7)(p22q21.3), 375

Spondyloardtropathy, HLA-B27 and spondyloarthropathy:value for early diagnosis? review article, 497

Spondylothoracic dysostosis, Congenital heart disease inspondylothoracic dysostosis: two familial cases, 633

Squamous cell carcinoma ofthe head and neck, Microsatelliteinstability in squamous cell carcinoma of the head and neck,143 abs

SRY genes, Partial disomy of Xp and the presence of SRY in aphenotypic female, 987

Stepwise screening, Stepwise or couple antenatal carrierscreening for cystic fibrosis?: women's preferences andwillingness to pay, 282

Succinate dehydrogenase, Hereditary myopathy with lacticacidosis, succinate dehydrogenase and aconitase deficiency innorthern Sweden: a genealogical study, 344

Superoxide dismutase, Superoxide dismutase mutations in anunselected cohort of Scottish amyotrophic lateral sclerosispatients, 290

Sweden, Hereditary myopathy with lactic acidosis, succinatedehydrogenase and aconitase deficiency in northern Sweden: agenealogical study, 344

Syndactyly type II, A large Turkish kindred with syndactyly typeII (synpolydactyly). 1 Field investigation, clinical and pedigreedata, 421: 2 Homozygous phenotype, 435

TTestotoxicosis, Identification of constitutively activating

mutation of the luteinising hormone receptor in a family withmale limited gonadotrophin independent precocious puberty(testotoxicosis), 553

Tetrasomy, Pallister-Killian syndrome: normal karyotype inprenatal chorionic villi, in postnatal lymphocytes, and in slowlygrowing epidermal cells, but mosaic tetrasomy 12p in skinfibroblasts, 68

Thalassaemia, Thalassaemia in Azerbaijan: letter, 245Thanatophoric dysplasia, De novo 1; 10 balanced translocation

in an infant with thanatophoric dysplasia: a clue to the locus ofthe candidate gene, 293

Thyroid hormone, Phenotypic variability in patients withgeneralised resistance to thyroid hormone, 393

Tibia, Absence/hypoplasia of tibia, polydactyly, retrocerebellararachnoid cyst, and other anomalies: an autosomal recessivedisorder, 896

1017

Subject index

TP53, An extended Li-Fraumeni kindred with gastric carcinomaand a codon 175 mutation in TP53, 942

Training, Training in clinical genetics in the UK: experiences oftrainees, 150 ptr

TranslocationDe novo 1;10 balanced translocation in an infant with

thanatophoric dysplasia: a clue to the locus of the candidategene, 293

Fetus with an X;1 balanced reciprocal translocation and eyedisease, 557

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features, 819

Kallmann syndrome in a boy with a t(1;10) translocationdetected by reverse chromosome painting, 957

Patient with Wolf-Hirschhorn syndrome originating fromtranslocation t(4;8)(p16.3;q24.3)pat, 65

Saethre-Chotzen syndrome associated with balancedtranslocations involving 7p2l: three further families, 174

Shwachman syndrome associated with de novo reciprocaltranslocation t(6;12)(q16.2;q21 .2), 894

Y;15 translocation with two different unbalanced segregants,139 abs

Transthyretin variant, A new transthyretin variant (Ser 24)associated with familial amyloid polyneuropathy, 279

Treacher Collins syndrome, Treacher Collins syndrome:syndrome of the month, 806

Trinucleotide repeat, A comparison of the Huntington's diseaseassociated trinucleotide repeat between Chinese and whitepopulations: letter, 404

Triplication, Right upper limb bud triplication and polythelia,left sided hemihypertrophy and congenital hip dislocation, facialdysmorphism, congenital heart disease, and scoliosis:disorganisation-like spectrum or patterning gene defect?, 555

TrisomyA prenatal diagnosis involving trisomy 16 mosaicism, 146 ptrDouble non-disjunction in maternal meiosis II giving rise to a

fetus with 48,XXX, + 21, 650Further delineation of the partial proximal trisomy lOq

syndrome, 968Tuberous sclerosisHamartomas from patients with tuberous sclerosis show loss of

heterozygosity for chromosome 9q34, 152 ptrMultifocal renal cell carcinoma in sibs from a chromosome 9

linked (TSC1) tuberous sclerosis family, 848Renal involvement in tuberous sclerosis, 144 abs

Turkey, A large Turkish kindred with syndactyly type II(synpolydactyly). 1 Field investigation, clinical and pedigreedata, 421: 2 Homozygous phenotype, 435

Turner's syndromeCytogenetic and molecular findings in patients with Turner'ssyndrome stigmata, 962

Detection ofY mosaicism in patients with Turner's syndrome:letter, 578

Molecular cytogenetic characterisation of a small ring Xchromosome in a Turner patient and in a male patient withcongenital abnormalities: role ofX inactivation, 113

Possible role of imprinting in the Turner phenotype, 138 absX inactivation studies in patients with Turner's syndrome and

ring X chromosomes, 153 ptrTwinsKabuki syndrome-like features in monozygotic twin boys with

a pseudodicentric chromosome 13, 227Monozygotic twins with chromosome 22ql 1 deletion and

discordant phenotype, 746Tylosis cancer gene, Mapping of the tylosis cancer gene in a

Liverpool pedigree with palmoplantar keratoderma andoesophageal cancer, 143 abs

Tyrosine hydroxylase, A weak association between TH andDRD2 genes and bipolar affective disorder in a Spanish sample,131

UUnited Arab Emirates, The profile of major congenital

abnormalities in the United Arab Emirates (UAE) population,7

UPD 13, UPD 13: no indication ofmaternal or paternal imprintingof genes on chromosome 13: letter, 493

Utrophins, Phylogenetic analysis of vertebrate and invertebratedystrophins and utrophins, 142 abs

VVaginal rhabdomyosarcoma, Vaginal rhabdomyosarcoma in a

patient with Noonan syndrome, 743Valproate syndrome, Fetal valproate syndrome: syndrome of the

month, 724Velocardiofacial syndrome

Cerebellar atrophy in a patient with velocardiofacial syndrome,561

Velocardiofacial syndrome: learning difficulties and intervention,612

Venous malformations, A gene for familial venousmalformations maps to chromosome 9p in a second largekindred, 197

Vertebrate developmentMolecular analysis of segmentation in vertebrate development,

136 absVertebrate developmental genetics: from one genome many

species, 135 absvon Hippel-Lindau disease

Detection of germline mutations in the von Hippel-Lindaudisease gene by the primer specified restriction mapmodification method, 938

Genotype-phenotype correlations in von Hippel-Lindau disease,137 abs

Molecular genetic diagnosis of von Hippel-Lindau disease infamilial phaeochromocytoma, 885

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic andsyndromic phaeochromocytomas, 934

von Recklinghausen neurofibromatosis, Psychological aspectsof von Recklinghausen neurofibromatosis (NF1): review article,921

von Willebrand's disease, Genetic counselling problems infamilies with multiple haemostatic disorders, 140 abs

WWaardenburg-Hirschsprung disease, Exclusion of RET andPax 3 loci in Waardenburg-Hirschsprung disease, 312

Waardenburg syndromeA frameshift mutation in the gene for PAX3 in a girl with spina

bifida and mild signs of Waardenburg syndrome, 52Chromosome 1 3q deletion with Waardenburg syndrome: further

evidence for a gene involved in neural crest function on 13q,531

WAGR syndrome, WAGR syndrome and multiple exostoses ina patient with del(1 1) (p I 1.2p 14.2), 823

Williams syndromeDetection of hemizygosity at the elastin locus by FISH analysis

as a diagnostic test in both classical and atypical cases ofWilliams syndrome, 692

Hemizygosity at the elastin locus (7qll) in Williams syndrome:a clinical tool? 145 abs

Wilms' tumour, WAGR syndrome and multiple exostoses in apatient with del(ll)(pll.2pl4.2), 823

Wilson disease, H7 14Q mutation in Wilson disease is associatedwith late, neurological presentation, 480

Wiskott-Aldrich syndrome, A variant of Wiskott-Aldrichsyndrome with nephropathy is linked to DXS255: letter, 757

Wolf-Hirschhorn family, Prenatal exclusion test of a Wolf-Hirschhorn family using PCR amplification with Huntington'sdisease primers, 149 ptr

Wolf-Hirschhorn syndrome, A patient with Wolf-Hirschhornsyndrome originating from translocation t(4;8)(pl6.3;q24.3)pat, 65

xX inactivationComparison of methods for studying X inactivation status in

females, 151 ptrMolecular cytogenetic characterisation of a small ring Xchromosome in a Turner patient and in a male patient withcongenital abnormalities: role of X inactivation, 113

On the mechanisms of sex chromosomal gene expression withparticular reference to X inactivation, 142 abs

X inactivation studies in patients with Turner's syndrome andring X chromosomes, 153 ptr

X linked agammaglobulinaemia, A new point mutationinvolving a highly conserved leucine in the Btk SH2 domain ina family with X linked agammaglobulinaemia: letter, 77

X linked complicated spastic paraplegia, Mutations in Ll-CAM in two families with X linked complicated spasticparaplegia, MASA syndrome, and HSAS, 549

1018

Subject index

X linked condition, Male neonatal death and progressiveweakness and immune deficiency in females: an unknown Xlinked condition, 191

X linked hydrocephalus, Prenatal diagnosis of X linkedhydrocephalus, 144 abs

X linked lymphoproliferative disease, Prenatal diagnosis ofXlinked lymphoproliferative disease using multiplex polymerasechain reaction: letter, 756

Xlinked recessive deafness syndrome, AnewX linked recessivedeafness syndrome with blindness, dystonia, fractures, andmental deficiency is linked to Xq22, 257

yY mosaicism, Detection ofY mosaicism in patients with Turner's

syndrome: letter, 578Y specific growth gene(s), Chromosomal localisation of a Y

specific growth gene(s), 572Yeast, Cell cycle regulation and signal transduction mechanisms

in yeast: the relevance to human disease, 136 abs

zZimbabwe, Oculocutaneous albinism among schoolchildren in

Harare, Zimbabwe, 859

1019

Journal of

MEDICALGENETICS

VOLUME 32 * 1995

Editor: Martin BobrowNorth American Editor: P Michael Conneally (Indianapolis)Reviews Editor: Rodney Harris (Manchester)Cytogenetics Editor: A Schinzel (Zurich)Molecular Genetics Editor: Ann Harris (Oxford)Technical Editor: Clare Henderson

Stylianos E Antonarakis (Geneva)V Baranov (St Petersburg)D Timothy Bishop (Leeds)M H Breuning (Leiden)David F Callen (Adelaide)A Cao (Cagliari)David R Cox (San Francisco)A E Czeizel (Hungary)Gerry Evers-Kiebooms (Leuven)J P Fryns (Leuven)T Gedde-Dahl Jr (Oslo)Karl-Heinz Grzeschik (Marburg)Judith G Hall (Vancouver)M R Hayden (Vancouver)Patricia A Jacobs (Salisbury)Thaddeus E Kelly (Charlottesville)

P McGuffin (Cardiff)Victor A McKusick (Baltimore)Jean-Louis Mandel (Strasbourg)T Marteau (London)T Mazurczak (Warsaw)Margareta Mikkelsen (Copenhagen)Arnold Munnich (Paris)Grant R Sutherland (Adelaide)N Tommerup (Copenhagen)G J B van Ommen (Leiden)Tessa Webb (Birmingham)Andrew 0 M Wilkie (Oxford)I D Young (Nottingham)Y T Zeng (Shanghai)Editor,

British Medical Journal

APPOINTED BY THE BRITISH MEDICAL ASSOCIATION

BRITISH MEDICAL ASSOCIATION * TAVISTOCK SQUARE * LONDON WC1H 9JR

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