Genetica tot 1 121-150

Question 1

Question

Identificati tehnica de cariotipare:

Image:

111 (binary/octet-stream)

Answer

Colorarea in benzi a crs prometafazici
FISH
SKY
Colorarea in benzi a crs metafazici
Colorarea uniforma a crs metafazici

Question 2

Question

Pentru diagnosticul prenatal al trisomiei 13 putem recomanda urmatoarele metode genetice:

Answer

PCR
FISH
Cariotiparea
Secventierea automata
Testul Barr

Question 3

Question

Estimati consecintele trisomiei crs.5

Answer

Letale
Sdr. Cri-du-chat
Sdr.Angelman
Fenotip normal
Sindrom plurimalformativ

Question 4

Question

Care dintre afirmatiile urmatoare referitoare la translocatiile robertsoniene este falsa?

Answer

Poate fi observata la subiectii clinic normali
Poate afecta oricare cromosom
Reprezinta una din anomaliile cromosomice de structura
Implica autosomii acrocentrici
Poate fi responsabila de malformatii la descendenti

Question 5

Question

Estimati consecintele trisomiei crs.21

Answer

Fenotip normal
Sdr. Warkany
Sdr. Edwards
Sdr. Down
Sdr. Patau

Question 6

Question

Identificati cariotipurile cu variatii in heterocromatina constitutiva:

Answer

46,XY,13s++
46,XY,9ph+
46,XY,16,qh+
46,XX,1qh-
46,XY,21ph+

Question 7

Question

Pentru diagnosticul prenatal al s.Down putem recomanda urmatoarele metode genetice:

Answer

Secventierea ADN
Bandarea crs Q
Testul Barr
PCR
FISH

Question 8

Question

Estimati consecintele trisomiei crs.8 in mosaic

Answer

Sdr. Edwards
Letale
Sdr. Wolf-Hirschhorn
Sdr. Warkany
Fenotip normal

Question 9

Question

Selectati cariotipuri asociate cu test Barr negativ:

Answer

47,XYY
47,XXX
46,X,i(Xp)
47,XXY
48,XXXY

Question 10

Question

Ce proces conduce la generarea de radicali liberi?

Answer

apoptoza
distrofia celulară
hipoptermia
Hipoxia
hiperemia arterială

Question 11

Question

Pentru diagnosticul prenatal al monosomiei X putem recomanda urmatoarele metode genetice:

Answer

PCR
Secventierea automata
Cariotiparea
Testul Barr
FISH

Question 12

Question

Cariotipuri asociate cu ACM letale:

Answer

47,XY,+8
47,XX,+21
47,XXY
45,XY,-4
46,XX,i(21p)

Question 13

Question

Pentru diagnosticul prenatal al s. Klinefelter putem recomanda urmatoarele metode genetice:

Answer

Bandarea crs Q
PCR
Secventierea ADN
Testul Barr
FISH

Question 14

Question

Identificati tehnica de cariotipare

Image:

111 (binary/octet-stream)

Answer

PCR
SKY
Testul F
Testul Barr
FISH

Question 15

Question

Care sunt metodele recomandate pentru identificarea microdeletiilor:

Answer

cariotiparea prin badare G
SKY
cariotiparea prin colorare omogena
cariotiparea prin badare R
FISH

Question 16

Question

Selectati cariotipuri asociate cu ACM letale:

Answer

47,XY,+13
47,XXY
47,XX,+21
45,XY,-13
46,XX,i(13p)

Question 17

Question

Identificati tehnica de cariotipare

Image:

111 (binary/octet-stream)

Answer

SKY
Colorarea omogena a crs metafazici
Barr
F
FISH

Question 18

Question

Pentru diagnosticul prenatal al s. cri-du-chat putem recomanda urmatoarele metode genetice:

Answer

Secventierea ADN
PCR
Testul Barr
Bandarea crs R
FISH

Question 19

Question

Selectati cariotipuri ce determina fenotip normal

Image:

111 (binary/octet-stream)

Answer

46,XY,9qh-
46,XX,11qh+
46,XX,16ph+
46,XY,16qh-
46,XX,13p-

Question 20

Question

Analizați cariotipurile cu ACM viabile

Answer

47,XX,+13/46,XY
45,XY,-3
45,XX,-21
47,XX,+8/46,XX
48,XXXY

Question 21

Question

Analizați cariotipurile cu ACM viabile

Answer

48,XXXY
46,XY,5p-
46,XY/47,XY,+21
45,XY,-3
45,XX,-21

Question 22

Question

Analizați cariotipurile cu ACM letale

Answer

47,XX,+13/46,XY
45,XY,-3
45,XX,-21
47,XX,+8/46,XX
48,XXXY

Question 23

Question

Selectati cariotipurile ce determina fenotip patologic (anomalii de dezvoltare)

Image:

111 (binary/octet-stream)

Answer

46,XY,9qh-
46,XX,11qh+
46,XX,16ph+
46,XY,16qh-
46,XX,13p-

Question 24

Question

Selectati cariotipurile ce determina fenotip patologic (anomalii de dezvoltare)

Image:

111 (binary/octet-stream)

Answer

46,XY,13q-
46,XX,i(21p)
46,XY, i(21q)
46,XY,i(18p)
46,XX,13p-

Question 25

Question

Identificati anomaliile letale

Answer

47,XX(XY),+5
45,XX(XY),-5
46,XX(XY),5p-
46,XX(XY),5p+
46,XX(XY),5q-

Question 26

Question

Identificati anomaliile viabile

Answer

45,XX(XY),-5
46,XX(XY),5p-
46,XX(XY),5p+
46,XX(XY),5q-
46,XX(XY),5q+

Question 27

Question

Identificati anomaliile viabile

Answer

47,XX(XY),+5
45,XX(XY),-5
46,XX(XY),5q-
46,XX(XY),5ph+
46,XX(XY),5q+

Question 28

Question

Identificati cariotipuri cu fenotip normal

Answer

46,XX(XY),15p-
46,XX(XY),15p+
46,XX(XY),15q-
46,XX(XY),15q+
46,XX(XY),15ph+

Question 29

Question

Analizati atent schema. Identificați polimorfismele crs

Image:

111 (binary/octet-stream)

Answer

46,XX(XY),13p-
46,XX(XY),13p+
46,XX(XY),13q-
46,XX(XY),13q+
46,XX(XY),13ph+

Question 30

Question

Selectați cariotipuri cu aneuploidii

Answer

45,XX,-18
48XXYY
47,XY+8/46,XX
45,X
69,XXY

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Genetica tot 1 121-150

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	Created by Andrei USMF 9 months ago