Genetica examen 121-150

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Quiz on Genetica examen 121-150, created by Sorin Monster on 08/06/2024.
Sorin Monster
Quiz by Sorin Monster, updated 6 months ago
Sorin Monster
Created by Sorin Monster 6 months ago
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Resource summary

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:
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
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
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
  • p
  • q
  • q2
  • 2pq
  • p2

Question 29

Question
Identificati simbolul ce reprezinta frecventa genei patologice pentru boala polichistică renală
Answer
  • p
  • q
  • q2
  • 2pq
  • p2

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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