Genetica examen 121-150

Question 1

Question

Care modificări ale cariotipului uman sunt întotdeauna incompatibile cu viaţa?

Answer

Pierderea unui autozom
Pierderea unui fragment cromozomial
Pierderea unei perechi de cromozomi
Surplusul unui cromozom
Surplusul unui set cromozomial (3n)

Question 2

Question

Setul cromozomial al celulelor sexuale feminine conţine:

Answer

Un cromozom X
Numai cromozomi X
Set diploid de cromozomi
22 autozomi
44 autozomi

Question 3

Question

Selectati cariotipuri cu anomalii de structura ce va determina lipsa corpusculului F:

Answer

46,X,Yq-
46,X,i(Yp)
46,X,Yq+
46,X,Yp-
46,X,i(Yq)

Question 4

Question

Identificati tehnica de cariotipare:

Image:

1 (binary/octet-stream)

Answer

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

Question 5

Question

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

Answer

PCR
FISH
Cariotiparea
Secventierea automata
Testul Barr

Question 6

Question

Estimati consecintele trisomiei crs.5

Answer

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

Question 7

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 8

Question

Estimati consecintele trisomiei crs.21

Answer

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

Question 9

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 10

Question

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

Answer

Secventierea ADN
Bandarea crs Q
Testul Barr
PCR
FISH

Question 11

Question

Estimati consecintele trisomiei crs.8 in mosaic

Answer

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

Question 12

Question

Selectati cariotipuri asociate cu test Barr negativ:

Answer

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

Question 13

Question

Ce proces conduce la generarea de radicali liberi?

Answer

apoptoza
distrofia celulară
hipoptermia
Hipoxia
hiperemia arterială

Question 14

Question

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

Answer

PCR
Secventierea automata
Cariotiparea
Testul Barr
FISH

Question 15

Question

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

Answer

Bandarea crs Q
PCR
Secventierea ADN
Testul Barr
FISH

Question 16

Question

Identificati tehnica de cariotipare

Image:

1 (binary/octet-stream)

Answer

PCR
SKY
Testul F
Testul Barr
FISH

Question 17

Question

Care sunt metodele recomandate pentru identificarea microdeletiilor:

Answer

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

Question 18

Question

Selectati cariotipuri asociate cu ACM letale:

Answer

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

Question 19

Question

Identificati tehnica de cariotipare

Image:

1 (binary/octet-stream)

Answer

SKY
Colorarea omogena a crs metafazici
Barr
F
FISH

Question 20

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 21

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 22

Question

Analizați cariotipurile cu ACM viabile

Answer

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

Question 23

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 24

Question

Selectati cariotipurile ce determina fenotip patologic (anomalii de dezvoltare)

Answer

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

Question 25

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 26

Question

Selectați cariotipuri cu aneuploidii

Answer

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

Question 27

Question

Selectați cariotipuri cu aneuploidii:

Answer

69,XYY
48,XXYY
92,XXYY
49,XXXYY
45,X

Question 28

Question

Identificati simbolul ce reprezinta frecventa genei patologice pentru Anemia S

Answer

Question 29

Question

Identificati simbolul ce reprezinta frecventa genei patologice pentru boala polichistică renală

Answer

Question 30

Question

Selectati raspunsul care exprima frecventa genei normale LDLR, daca frecventa bolnavilor este 1:500(V radical):

Answer

p= V(1-1/500)
q= V(1-1/500)
p=1- V(1-1/500)
q=1- V(1-1/500)
p= V(1/ 500)

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Genetica examen 121-150

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Resource summary

Question 1

Question 2

Question 3

Question 4

Question 5

Question 6

Question 7

Question 8

Question 9

Question 10

Question 11

Question 12

Question 13

Question 14

Question 15

Question 16

Question 17

Question 18

Question 19

Question 20

Question 21

Question 22

Question 23

Question 24

Question 25

Question 26

Question 27

Question 28

Question 29

Question 30

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