the principles of clinical cytogenetics, second edition. edited by s.l. gersen and m.b. keagle....

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ß 2006 Wiley-Liss, Inc. American Journal of Medical Genetics 140A:797 (2006) Book Review THE PRINCIPLES OF CLINICAL CYTOGENETICS, SECOND EDITION. Edited by S.L. Gersen and M.B. Keagle. Humana Press, Totowa, NJ, 2005, 596 p. The first edition produced by these editors in 1999 was written to provide complete information on the different aspects of clinical cytogenetics in a single volume. Most members of the current cytogenetic community have benefited considerably from the initial script. With substantial progress in this field, including the increasing clinical application of cancer cytogenetics and significant advances in molecular cytogenetics in particular, during the past 5 years, an updated and expanded version should be most welcome. Like the first edition, this book is clearly written, appropriately oriented and very informative. So, what is new in the second edition? There are two new chapters on Chromosome Instability (by X. Zhang) and the Cytogenetics of Infertility (by L.M. Randolph) in the Clinical Cytogenetics section, the former is focused on fragile sites and chromosome instability syndromes and the latter is dedicated to cytogenetic contribution in female infertility (ovar- ian dysfunction and endometriosis) and male infertility. Increased coverage of cancer cytogenetics has a separate section with two distinct chapters covering Hematological Disorders (by R.C. Naeem) in which the author describes hematological malig- nancies according to the World Health Organization (WHO) classification and details discussion on the incorporation of cytogenetic and molecular genetic information currently available in this field, and Solid Tumors (by J.A. Fletcher) that summarizes the recent progress in solid tumor cytogenetics and highlights the application of cytogenetics in mesenchymal and renal tumors. A full section of fluorescence in situ hybridization (FISH) focused on the current clinical applications of FISH technolo- gies (by D.J. Wolff and S. Schwartz) is included. The rest of the text is the same as in Volume 1, that is, sections on Basic Concept, Chromosome Analysis, Clinical Cytogenetics and Beyond Chromosomes. These have been thoroughly revised by most of the original authors providing a state-of-the-art review of the subjects. For example, the chapter of Structural Chromosome Rearrangements (by K. Kaiser-Rogers and K. Rao) discusses major advances in recent years related to the underlying molecular mechanisms of structural rearrangements, such as the role of low copy repeats (LCPs) in the formation of deletions, duplications, inversions, transloca- tions, isochromosomes, and marker chromosomes. It is a very useful refresher regarding this subject and it is one of the best that I have read. Other chapters are also well done and strong. In addition, the book contains more than 2,300 references, an increase of 700 over the first edition providing a useful source for someone seeking an in-depth understanding of specific topics. The only weakness that I found in the book is the absence of appropriate web sites to which readers may go to find more updated information. True to its title, the second edition remains concentrated on principles and gives a broad and updated overview of all aspects of clinical cytogenetics. It is not only of essential value to the present-day cytogenetic community, but also a comprehensive reference source for all health care providers who depend on the cytogenetics labora- tory for the diagnosis and prognosis of their patients as well as students who are considering entering this field. Jia Xu Cytogenetics Laboratory Department of Pediatrics Division of Medical Genetics University of Utah, Salt Lake City, Utah Received 30 September 2005; Accepted 31 December 2005 DOI 10.1002/ajmg.a.31135

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Page 1: The principles of clinical cytogenetics, second edition. Edited by S.L. Gersen and M.B. Keagle. Humana Press, Totowa, NJ, 2005, 596p

� 2006 Wiley-Liss, Inc. American Journal of Medical Genetics 140A:797 (2006)

Book Review

THE PRINCIPLES OF CLINICAL CYTOGENETICS,SECOND EDITION.Edited by S.L. Gersen and M.B. Keagle.Humana Press, Totowa, NJ, 2005, 596 p.

The first edition produced by these editors in 1999was written to provide complete information on thedifferent aspects of clinical cytogenetics in a singlevolume. Most members of the current cytogeneticcommunity have benefited considerably from theinitial script. With substantial progress in this field,including the increasing clinical application ofcancer cytogenetics and significant advances inmolecular cytogenetics in particular, during the past5 years, an updated and expanded version should bemost welcome.Like the first edition, this book is clearly written,

appropriately oriented and very informative. So,what is new in the second edition? There are twonew chapters on Chromosome Instability (by X.Zhang) and the Cytogenetics of Infertility (by L.M.Randolph) in the Clinical Cytogenetics section, theformer is focused on fragile sites and chromosomeinstability syndromes and the latter is dedicated tocytogenetic contribution in female infertility (ovar-ian dysfunction and endometriosis) and maleinfertility. Increased coverage of cancer cytogeneticshas a separate section with two distinct chapterscovering Hematological Disorders (by R.C. Naeem)in which the author describes hematological malig-nancies according to theWorld Health Organization(WHO) classification and details discussion on theincorporation of cytogenetic and molecular geneticinformation currently available in this field, andSolid Tumors (by J.A. Fletcher) that summarizesthe recent progress in solid tumor cytogeneticsand highlights the application of cytogenetics inmesenchymal and renal tumors. A full section offluorescence in situ hybridization (FISH) focused onthe current clinical applications of FISH technolo-

gies (by D.J. Wolff and S. Schwartz) is included. Therest of the text is the same as in Volume 1, that is,sections on Basic Concept, Chromosome Analysis,Clinical Cytogenetics and Beyond Chromosomes.These have been thoroughly revised by most of theoriginal authors providing a state-of-the-art reviewof the subjects. For example, the chapter ofStructural Chromosome Rearrangements (by K.Kaiser-Rogers and K. Rao) discusses major advancesin recent years related to the underlying molecularmechanisms of structural rearrangements, such asthe role of low copy repeats (LCPs) in the formationof deletions, duplications, inversions, transloca-tions, isochromosomes, and marker chromosomes.It is a very useful refresher regarding this subject andit is one of the best that I have read. Other chaptersare also well done and strong. In addition, the bookcontains more than 2,300 references, an increase of700 over the first edition providing a useful sourcefor someone seeking an in-depth understanding ofspecific topics. The onlyweakness that I found in thebook is the absence of appropriate web sites towhich readers may go to find more updatedinformation.True to its title, the second edition remains

concentrated on principles and gives a broadand updated overview of all aspects of clinicalcytogenetics. It is not only of essential value to thepresent-day cytogenetic community, but also acomprehensive reference source for all health careproviders who depend on the cytogenetics labora-tory for the diagnosis and prognosis of their patientsas well as students who are considering entering thisfield.

Jia XuCytogenetics LaboratoryDepartment of PediatricsDivision of Medical GeneticsUniversity of Utah, Salt Lake City, Utah

Received 30 September 2005; Accepted 31 December 2005

DOI 10.1002/ajmg.a.31135