jfkj
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Totalizarea I GU
1.)CS Cariotipul uman este definit de:+totalitatea celor 23 perechi de cromozomi
totalitatea moleculelor de !"# dintro celulatotatitatea celor 23 de cromozomitotalitatea celor 3$ $$$ perechi %enetotalitatea caracterelor unui indi&id
2.)CS Genomul uman este definit de:totalitatea celor 23 de cromozomi
totalitatea celor 23 perechi de cromozomi+totalitatea moleculelor de !"# dinrto celulatotalitatea celor 3$ $$$ de %enetotalitatea caracterelor unui indi&id
3.)CS Genotipul unei persoane este definit de:totalitatea celor 23 de cromozomitotalitatea celor 23 perechi de cromozomi+totalitatea celor 3$$$$ perechi %enetotalitatea moleculelor de !"# dintro celulatotalitatea caracterelor morfolo%ice' fiziolo%ice' (iochimice manifestate de un indi&id
4.)CS enotipul unei persoane este definit de:
totalitatea moleculelor dintro celulatotalitatea cromozomilor din celula somaticatotalitatea cromozomilor din %amettotalitatea celor 3$ $$$ perechi %ene+totalitatea caracterelor interne si e*terne manifestate de indi&id
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.) CS ,olimorfismul cromozomial este determinat de:&ariatii indi&iduale fenotipice&ariatii indi&iduale ale numarului de cromozomi
&ariatii indi&iduale in structura cromozomilor +&ariatii indi&iduale in re%iunile crs cu heterocromatina constituti&a
6.)C- !neuploidiile sunt reprezentate de:+trisomiitriploidii+monosomii
deletii crsduplicatii crs
7.)C- !nomaliile cromozomiale echili(rate sunt:anomalii de #r a cromosomilor +anomalii de structura a cromozomilor +anomalii ce modifica ordinea %enelor pe cromozomi+anomalii ce' de re%ula' nu modifica fenotipul purtatoruluianomalii ce' de re%ula' modifica fenotipul purtatorului
8.)C- !nomalii cromozomiale neechili(rate sunt:+deletii crs+duplicatii crs
in&ersii crstranslocatii crs+crs inelari
.)C- Identificati caritipurile cu trisomii &ia(ile:+/0'
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+/0'+/0'+/0'' +21
/0''+22
10.)C- Identificati caritipurile cu trisomii &ia(ile:+/0''++/0''+1/0''+3+/0''+13
+/0'
11.)C- Identificati caritipurile cu trisomii &ia(ile:/0''+2+/0''+21/0''+12/0''+22+/0'
12.)C- Identificati caritipurile cu aneuploidii &ia(ile:+/'/''21+/'
/'4'
13.)C- Identificati cariotipurile cu anomalii cromosomiale letale:+4'+
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4'+/0''+2$/'+
/4'5/''21
14.)C- Identificati cariotipurile cu anomalii cromosomiale letale:$' /0''+215/4'/'+/''0+
/0''+0
1.)C- Identificati cariotipurile cu anomalii cromosomiale echili(rate:/4''ro(621522)+/''ro(61/522)+/4''t611722)/4''i6/8)+
/4''in&6/8)
16.)C- Identificati cariotipurile cu anomalii cromosomiale echili(rate:/4''i6p)/4''i638)+/''ro(621521)/4''ro(61351)+
/4''t671)10.)C- Identificati cariotipurile cu polimorfisme cromosomiale :+/4''18h/4''ph++/4''14'8h+
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+/4''21ph++/4''13s++
18.)C- Identificati cariotipurile cu polimorfisme cromosomiale:/4''1ph++/4''13ph++/4''8h++/4''22p+/4''21p+
19.)C- Identificati cariotipurile cu polimorfisme cromosomiale :+/4''13p/4''1/8+/4''8/4''p/4''p
20.)
CS Identificati cariotipul ce determina fenotip normal.+/4''p+/4''8/4''p/4''1ph+
/4'5/'21.)CS Identificati cariotipul ce determina fenotip normal.+/4''8/4''p/4''r6)
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/0'5/'/0'
22.)CS Identificati cariotipul ce determina fenotip normal./4''148/4''1/'8+/4''22p/4''218h+/4''1ph+
23.)CS Identificati cariotipul ce determina fenotip normal./4''r6)/4''r6)/4''r63)+/4''i6p)/4''i68)
24.)CS Identificati cariotipul ce determina fenotip patolo%ic.+/4''8/4''8+/4''p+/4''8+/4''8
25.)
CS Identificati cariotipul ce determina fenotip patolo%ic.+/'/0'/'
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/0'/4'5/0'
26.)CS Identificati cariotipul ce determina fenotip patolo%ic./4''i6p)+/4''i68)/4''in&68)/4''in&6p)/4''t6/71/)
27.)CS Identificati cariotipul cu cromozom ,h.+/4''t6722)/4''ro(621522)/'5/4'/4''in&68)/4''i621p)
28.) CS Identificati mozaicul./4'+/4'5/'/0'/'/'
29.) CS Identificati mozaicul./0''+21/0''+1/'
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+/0'5/4'/'
30.) CS Identificati mozaicul.+/0'5/'/''/4'/''+21/4''i6218)
31.)C- Identificati cariotipurile ce pot determina sindromul "o9n:+/0''+21+/4'5/0''+21/''21/4''i621p)/4''218
32.)C- Identificati cariotipurile ce pot determina sindromul "o9n:+/0''+21+/0''+215/4'+/4''218++/4''ro(621521)/''ro(621521)
33.)C- Un (aiat cu sindrom "o9n are:+4 crs in %r !4 crs in %rupa 14 crs in %r C+
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4 crs in %r "+4 crs in %rupa G
34.)
C- Un (aiat cu sindrom ,atau are:+/ crs in %rupa +1 crs in %rupa C crs in %rupa " crs in %rupa + %rs in %rupa G
35.)C- ;a analiza cariotipului unei nounascute cu sindrom <d9ards au fost identificati/4 de cromozomi. Care ar fi putut fi cariotipul ei=/4''i61p)/4''i618)+/4''1p++/4''18+/4''r61)
34.)C- !le%eti cariotipurile ce se pot asocia cu fenotip >linefelter /0'+/0'+/'+/'/0'
37.)C- !le%eti cariotipurile ce se pot asocia cu fenotip Turner +/'+/4''p+/4''r6)
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/4''p++/4''i68)
38.)C- !le%eti cariotipurile ce se pot asocia cu fenotip ,atau
+/0''+13/4''i613p)+/4''i6138)/4''dup613p)+/4''dup6138)
39.)C- !le%eti cariotipurile ce se pot asocia cu fenotip ?criduchat?
/4''p++/4''p/4''8+/4''p/4''8+
40.)C- !le%eti cariotipurile ce se pot asocia cu fenotip Turner /''/''1/'+/4''i68)+/4''p
41.)C- -ozaicul /'5/4' poate rezulta prin:erori meiotice materneerori meiotice paterne+erori @n mitoza zi%otului+
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erori @n mitoza (lastomerilor +#" sau A! a crs
42.)
C- -ozaicul /' 5 /0' poate rezulta prin:+erori mitoticeerori meiotice+#" crs
A! crs #" sai A! a crs
43.)C- -ozaicul /0''+215 /4' poate rezulta prin:+erori mitoticeerori meiotice+#"+
A!+rezultatul sal&Brii unei trisomii constituionale
44.)C- -ozaicul /0'5/4 poate rezulta prin:erori meiotice+erori mitotice#" crs la di&iziunea zi%otului+#" crs la di&iziunea (lastomerilor +
A! a crs la di&iziunea zi%otului sau (lastomerilor
45.)C- Di%otul /0''+1 poate rezulta prin:erori mitotice+erori meiotice+#" crs 1 @n o&o%enezB+
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#" crs 1 @n spermato%enezB#" crs 21 la di&iziunea (lastomerilor
46.)C- Di%otul /0''+21 poate rezulta prin:
+fecundarea unui o&ul disomic cu un spermatozoid monosomic+fecundarea unui o&un monosomic cu un spermatozoid disomic+#" crs 21 @n !I a meiozei materne+#" crs 21 @n anafaza II paternBerori mitotice
47.)
C- Di%otul /4''1p+ poate rezulta prin:+erori meioticeerori mitotice#" crs 1CTC crs 1+CE ine%al crs 1
48.)C- Di%otul /4''i68) poate rezulta prin:+erori @n spermato%enezB+erori @n o&o%enezBerori @n ,rofaza I a meiozeierori @n !nafaza I a meiozei+erori @n !nafaza II a meiozei
49.)C- Ce metode poti recomanda pentru identificarea microdeletiilor +ISFcariotiparea prin (adare Gcariotiparea prin (adare
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cariotiparea prin colorare omo%ena+S>
50.)C- Ce metode poti recomanda pentru dia%nosticul sindromului Turner
+cariotiparea prin (adare G+cariotiparea prin (adare +ISF+test arr test