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Genetika > Genetika gyak > Flashcards

Genetika gyak Flashcards

1
Q

Telomeraza este activa in

A

tesuturi embrio-fetale
celulele stem-maduva osoasa
procese neoplazice

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2
Q

Cromozomi cu sateliti

A

13,14, 15, 21,22

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3
Q

Cromozomi cu constrictii secundare

A

1,9,16,Y

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4
Q

Sateliti

A

13, 14, 15, 21, 22

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5
Q

Constrictii secundare

A

13, 14, 15, 21, 22- terminale

1, 9, 16, Y- interstitiale

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6
Q

Situsul fragil

A

Xq27.3-debilitate mentala

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7
Q

NOR

A

Vizualizarea a organizatorilor nucleolari de la niveul cromozomilor acrocentrici

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8
Q

Corpusculul F

A

Portiunea distala a cromozomului Y prezinta a fluorescenta intensa

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9
Q

Dezavantajul marcajului G

A

Necolorarea telomerelor

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10
Q

Marcajul Q si G sunt curasponzatoare

A

Regiunilor heterocromatice bogate in AT

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11
Q

Marcajul R se obtin prin

A

denaturarea termica ADN-ului

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12
Q

Benzile R sunt curasponzatoare

A

regiunulor eucromatice bogate in GC

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13
Q

In marcajul T

A

capetele cromozomilor apar intens colorate, este o foarte buna diferentiere a telomerelor si a benzilor

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14
Q

Dezavantajul marcajului T

A

este foarte laborioasa

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15
Q

Marcajul C

A

evidentiaza heterocromatina constitutiva la nivel centromeric

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16
Q

Cauza cea mi frecventa a triploidiei

A

Dispermie

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17
Q

Cauza tetraploidiei

A

Endoreduplicare

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18
Q

Trisomii viabile

A

21, 18, 13, 8 ,xxx,xxy,xyy

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19
Q

DSCR

A

21q22

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20
Q

Sindromul Down boli asemanatoare

A

Beckwith-Wiedermann,ZELLWEGEN

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21
Q

Down riscul de recurenta

A 
mozaicism-0,1%
Translocatie robertsoniana (neomologi)-mama10%, tata1%
Translocatie robertsoniana (omologi)-100%
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22
Q

Patau risc de recurenta

A

trisomie libera <1%
purtatori de translocatie (neomologi)- 10%
portatori de translocatie (omlogi)-100%

23
Q

Prognostic Patau

A

Prognostic grav, 50 % mor in perioad neonatal

24
Q

Simptomatologie Sindromului Down

A 
hipotrofie staturo-ponderala
hipotonie musculara
profil plat
pete bushfield
limba geografica 
gat scurt
malformatii congenitale
25
Q

Simptomatologie sindromului Patau

A 
hipotrofie ponderala
microceflie
despicatura labio-palatina
Hernii
polidactilie
malformatii congenitale
26
Q

Simptomatologia sindromului Edwards

A 
hipotrofie staturo-ponderala
hipertonia musculara
microcefalie
pumn inclestat
hernii
malformatii congenitale
27
Q

Prognostic Edwards

A

5-10% dinire copii supravietuiesc pana la 1 an

28
Q

Absenta bratului scurt Turner

A

hipostatura, malformatii cogenitale

29
Q

Absenta bratului lung Turner

A

disfunctie gonadica

30
Q

Simptomatologie Turner

A 
limfodem congenital
Distanta intermamelonara mare
Faces triangular
semnul lui Archibald
gat scurt
malformatii cardiace
absenta sau hipodezvoltarea caracterelor sexuale
sterilitate primara
inteligenta normala sau la limmita inferioare
31
Q

Fenotip asemanator

A

Sindromul Noonan

32
Q

Simptomatologie trisomia X

A

Talie desupra mediei
tulburari mentruale:cicluri neregulate
sterilitate, avorturi spontane

33
Q

Simptomatologie Klinefelter

A 
statura inalta
membre lungi
musculatura slab dezvoltata
dislexie
imaturitate
absenta caracterelor sexuale secundare
azoospermie
34
Q

Prognostic Klinefelter

A

Terapia androgenica pe toata perioada a vietii

predispusi de diabet zaharat si bronsita cronica

35
Q

Simptomatologie XYY

A

tale inalta
hiperactivitate
acnee nodulochistica
dinti lungi

36
Q

Crommozom marker in leucemia mieloida cronica

A

Philadelphia

37
Q

Cauza Cri du chat

A

del(5p)

38
Q

Simptomatologie Cri du chat

A

plans asemanator cu mieunatul de pisica
deficit staturo-ponderal
retard mental sever
microcefalie

39
Q

Cauza Anti Down

A

del(21q) r(21)

40
Q

Simptomatologia Anti Down

A

hipotrofie ponderala
hipertónia musculara
fanta palpebrae antimongoloide

41
Q

Prognostic Anti Down

A

supravietuire este cateva luni postnatal

42
Q

Cauza Wolf-hirschhorn

A

monosomit 4 partiala, del(4)

43
Q

Simptomatologie wolf-hirschhorn

A

hipotrofie statuwro ponderala
microcefalie
fata cu aspect de casca de luptator grec
retard mental sever

44
Q

Cauza Prader Willi

A

del (15q11-13)-paterna

45
Q

Simptomatologie Prade Wili

A

Tulburari de deglutie
obeztate
fante palpebrale anti mongoloide
bulemie

46
Q

Cauza Angelman

A

del(15q11-13)-materna

47
Q

Simptomatologia Angelman

A

microcefalie
retard mental sever
absenta vorbirii
crize incontrolabile de ras

48
Q

Cauza williams

A

del (7q11.23)

49
Q

Simptomatologie Williams

A

Stenoza aortica
hipercalcemie
hipstatura
retard mental sever

50
Q

Cauza velo-cardo-facial Digeorge

A

del(22q11.2)

del(10p13)

51
Q

Simptomatologie velo-cardio-facial

A 
Malformatii cardiace
anomaliili palatului
anomalii endocriine 
dismorfie cranio faciala
rtard mental moderat
52
Q

Particularitatile caracterele monogenice

A

Forte Putin influenzát de mediu
Distributia in populatie este bimodala sau multimodala
au o mare variabilitate in populatie-polimorfism

53
Q

Reactia cu lectine vegetale sau animale anti H positive si negativ

A

Pozitiva-HH,Hh

Negativa-hh-bombay

Genetika (2 decks)

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