Genetika gyak

Question 1

Telomeraza este activa in

Answer 1

tesuturi embrio-fetale
celulele stem-maduva osoasa
procese neoplazice

Question 2

Cromozomi cu sateliti

Answer 2

13,14, 15, 21,22

Question 3

Cromozomi cu constrictii secundare

Answer 3

1,9,16,Y

Question 4

Sateliti

Answer 4

13, 14, 15, 21, 22

Question 5

Constrictii secundare

Answer 5

13, 14, 15, 21, 22- terminale

1, 9, 16, Y- interstitiale

Question 6

Situsul fragil

Answer 6

Xq27.3-debilitate mentala

Question 7

NOR

Answer 7

Vizualizarea a organizatorilor nucleolari de la niveul cromozomilor acrocentrici

Question 8

Corpusculul F

Answer 8

Portiunea distala a cromozomului Y prezinta a fluorescenta intensa

Question 9

Dezavantajul marcajului G

Answer 9

Necolorarea telomerelor

Question 10

Marcajul Q si G sunt curasponzatoare

Answer 10

Regiunilor heterocromatice bogate in AT

Question 11

Marcajul R se obtin prin

Answer 11

denaturarea termica ADN-ului

Question 12

Benzile R sunt curasponzatoare

Answer 12

regiunulor eucromatice bogate in GC

Question 13

In marcajul T

Answer 13

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

Question 14

Dezavantajul marcajului T

Answer 14

este foarte laborioasa

Question 15

Marcajul C

Answer 15

evidentiaza heterocromatina constitutiva la nivel centromeric

Question 16

Cauza cea mi frecventa a triploidiei

Answer 16

Dispermie

Question 17

Cauza tetraploidiei

Answer 17

Endoreduplicare

Question 18

Trisomii viabile

Answer 18

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

Question 19

DSCR

Answer 19

21q22

Question 20

Sindromul Down boli asemanatoare

Answer 20

Beckwith-Wiedermann,ZELLWEGEN

Question 21

Down riscul de recurenta

Answer 21

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

Question 22

Patau risc de recurenta

Answer 22

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

Question 23

Prognostic Patau

Answer 23

Prognostic grav, 50 % mor in perioad neonatal

Question 24

Simptomatologie Sindromului Down

Answer 24

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

Question 25

Simptomatologie sindromului Patau

Answer 25

``` hipotrofie ponderala microceflie despicatura labio-palatina Hernii polidactilie malformatii congenitale ```

Question 26

Simptomatologia sindromului Edwards

Answer 26

``` hipotrofie staturo-ponderala hipertonia musculara microcefalie pumn inclestat hernii malformatii congenitale ```

Question 27

Prognostic Edwards

Answer 27

5-10% dinire copii supravietuiesc pana la 1 an

Question 28

Absenta bratului scurt Turner

Answer 28

hipostatura, malformatii cogenitale

Question 29

Absenta bratului lung Turner

Answer 29

disfunctie gonadica

Question 30

Simptomatologie Turner

Answer 30

``` 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 ```

Question 31

Fenotip asemanator

Answer 31

Sindromul Noonan

Question 32

Simptomatologie trisomia X

Answer 32

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

Question 33

Simptomatologie Klinefelter

Answer 33

``` statura inalta membre lungi musculatura slab dezvoltata dislexie imaturitate absenta caracterelor sexuale secundare azoospermie ```

Question 34

Prognostic Klinefelter

Answer 34

Terapia androgenica pe toata perioada a vietii | predispusi de diabet zaharat si bronsita cronica

Question 35

Simptomatologie XYY

Answer 35

tale inalta hiperactivitate acnee nodulochistica dinti lungi

Question 36

Crommozom marker in leucemia mieloida cronica

Answer 36

Philadelphia

Question 37

Cauza Cri du chat

Answer 37

del(5p)

Question 38

Simptomatologie Cri du chat

Answer 38

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

Question 39

Cauza Anti Down

Answer 39

del(21q) r(21)

Question 40

Simptomatologia Anti Down

Answer 40

hipotrofie ponderala hipertónia musculara fanta palpebrae antimongoloide

Question 41

Prognostic Anti Down

Answer 41

supravietuire este cateva luni postnatal

Question 42

Cauza Wolf-hirschhorn

Answer 42

monosomit 4 partiala, del(4)

Question 43

Simptomatologie wolf-hirschhorn

Answer 43

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

Question 44

Cauza Prader Willi

Answer 44

del (15q11-13)-paterna

Question 45

Simptomatologie Prade Wili

Answer 45

Tulburari de deglutie obeztate fante palpebrale anti mongoloide bulemie

Question 46

Cauza Angelman

Answer 46

del(15q11-13)-materna

Question 47

Simptomatologia Angelman

Answer 47

microcefalie retard mental sever absenta vorbirii crize incontrolabile de ras

Question 48

Cauza williams

Answer 48

del (7q11.23)

Question 49

Simptomatologie Williams

Answer 49

Stenoza aortica hipercalcemie hipstatura retard mental sever

Question 50

Cauza velo-cardo-facial Digeorge

Answer 50

del(22q11.2) | del(10p13)

Question 51

Simptomatologie velo-cardio-facial

Answer 51

``` Malformatii cardiace anomaliili palatului anomalii endocriine dismorfie cranio faciala rtard mental moderat ```

Question 52

Particularitatile caracterele monogenice

Answer 52

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

Question 53

Reactia cu lectine vegetale sau animale anti H positive si negativ

Answer 53

Pozitiva-HH,Hh | Negativa-hh-bombay