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Genetica umana - Totalizarea 1 Tema 2

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Quiz on Genetica umana - Totalizarea 1 Tema 2 , created by Ariana Pantaz on 04/02/2022.
Ariana Pantaz
Quiz by Ariana Pantaz, updated more than 1 year ago
Ariana Pantaz
Created by Ariana Pantaz about 2 years ago
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Resource summary

Question 1

Question
La analiza cariotipului unei nou-nascute cu sindrom Edwards au fost identificati 46 de cromozomi. Care este cariotipul posibil?
Answer
  • 46,XX,r(18)
  • 46,XX,18p+
  • 46,XX,18q+
  • 46,XX,i(18p)
  • 46,XX,i(18q)

Question 2

Question
Identificati cariotipurile cu polimorfisme cromosomiale :
Answer
  • 46,X,Xp-
  • 46,X,Yp-
  • 46,XX,14p-
  • 46,XY,2p+
  • 46,X,Yq+

Question 3

Question
Pentru diagnosticul prenatal al s.Down putem recomanda urmatoarele metode genetice:
Answer
  • Secventierea ADN
  • Bandarea crs Q
  • Testul Barr
  • PCR
  • FISH

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
Fenotipul unei persoane este definit de: -----
Answer
  • setul de 46 cromozomi
  • totalitatea caracterelor determinate de genotip si plasmotip
  • totalitatea mol de ADN nuclear si mitocondrial ------
  • totalitatea celor 30000 perechi gene
  • setul de 23 cromozomi -----

Question 6

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 7

Question
Identificati cariotipurile cu trisomii letale:
Answer
  • 47,XXX
  • 47,XX,+2
  • 47,XY,+21
  • 47,XY,+12
  • 47,XX,+22

Question 8

Question
Selectati cariotipurile posibile a unei femei cu sdr. Turner si test Barr pozitiv:
Answer
  • 46,X,i(Xp)
  • 46,X,Xp-
  • 46,X,i(Xq)
  • 45,X
  • 46,X,r(X)

Question 9

Question
Identificati cariotipul ce determina fenotip normal.
Answer
  • 46,X,Yq+
  • 46,X,i(Yq)
  • 46,XY,r(3)
  • 46,X,r(Y)
  • 46,X,r(X)

Question 10

Question
Pentru diagnosticul prenatal al trisomiei 13 putem recomanda urmatoarele metode genetice:
Answer
  • PCR
  • FISH
  • Cariotiparea
  • Secventierea automata
  • Testul Barr

Question 11

Question
Selectati cariotipuri asociate cu fenotip normal:
Answer
  • 46,XX,14p-
  • 46,XY,inv(6p)
  • 46,XY
  • 46,XY,9qh-
  • 46,XX,i(11q)

Question 12

Question
Cariotipul unei persoane este definit de:
Answer
  • setul de 46 cromozomi
  • setul de 23 cromozomi
  • totalitatea mol de ADN nuclear si mitocondrial
  • totalitatea celor 30000 perechi de gene
  • totalitatea caracterelor determinate de genotip si plasmotip

Question 13

Question
Identificati cariotipuri ce determina fenotip patologic:
Answer
  • 46,XX,16q-
  • 46,XX,1ph+
  • 46,XX,21qh+
  • 46,XX,22q-
  • 46,XX,14p-

Question 14

Question
Identificati cariotipurile ce pot determina sindromul Down:
Answer
  • 46,XY,rob(21/14)
  • 47,XY,+21
  • 46,XY,21q+
  • 47,XY,+21/46,XY
  • 45,XY,rob(21/21)

Question 15

Question
Pentru diagnosticul prenatal al monosomiei X putem recomanda urmatoarele metode genetice:
Answer
  • PCR
  • Secventierea automata
  • Cariotiparea
  • Testul Barr
  • FISH

Question 16

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 17

Question
Selectati cariotipuri asociate cu test Barr negativ:
Answer
  • 47,XYY
  • 47,XXX
  • 46,X,i(Xp)
  • 47,XXY
  • 48,XXXY

Question 18

Question
Alegeti cariotipurile ce se pot asocia cu fenotip Turner:
Answer
  • 45,X
  • 46,X,r(X)
  • 46,X,Xq+
  • 46,X,i(Xq)
  • 46,X,Xp-

Question 19

Question
Selectati cariotipuri asociate cu ACM letale:
Answer
  • 47,XY,+13
  • 47,XXY
  • 47,XX,+21
  • 45,XY,-13
  • 46,XX,i(13p)

Question 20

Question
Ce proces conduce la generarea de radicali liberi?
Answer
  • apoptoza
  • distrofia celulară
  • hipoptermia
  • Hipoxia
  • hiperemia arterială

Question 21

Question
Estimati consecintele trisomiei crs.21
Answer
  • Fenotip normal
  • Sdr. Warkany
  • Sdr. Edwards
  • Sdr. Down
  • Sdr. Patau

Question 22

Question
Alegeti cariotipurile ce se pot asocia cu fenotip "cri-du-chat":
Answer
  • 46,XY,5q-
  • 46,XY,5q+
  • 46,XX,5p-
  • 46,XX,5p+
  • 46,XY,5p-

Question 23

Question
Identificati tehnica de cariotipare
Image:
Screenshot+2022 02 04+At+22.15.51 (binary/octet-stream)
Answer
  • SKY
  • Colorarea omogena a crs metafazici
  • Barr
  • F
  • FISH

Question 24

Question
Identificati cariotipul ce determina fenotip patologic.
Answer
  • 46,X,Yq-
  • 46,X,Yp+
  • 46,X,r(X)
  • 46,X,Xq+
  • 46,X,Yq+

Question 25

Question
Alegeti cariotipurile ce se pot asocia cu fenotip Klinefelter:
Answer
  • 48,XXXY
  • 46,XX/46,XY
  • 49,XXXXY
  • 47,XYY
  • 47,XXY

Question 26

Question
Alegeti cariotipurile ce se pot asocia cu fenotip Turner:
Answer
  • 45,XY,-15
  • 45,X
  • 46,X,r(X)
  • 46,X,i(Yq)
  • 45,XX,-8

Question 27

Question
Selectati cariotipuri asociate cu fenotip Klinefelter:
Answer
  • 47,XX,+21
  • 47,XXY
  • 48,XXXY
  • 46,X,i(Xp)
  • 47,XYY

Question 28

Question
Estimati consecintele trisomiei crs.8 in mosaic
Answer
  • Sdr. Edwards
  • Letale
  • Sdr. Wolf-Hirschhorn
  • Sdr. Warkany
  • Fenotip normal

Question 29

Question
Care sunt metodele recomandate pentru identificarea microdeletiilor:
Answer
  • cariotiparea prin badare G
  • SKY
  • cariotiparea prin colorare omogena
  • cariotiparea prin badare R
  • FISH

Question 30

Question
Selectati cariotipul asociat cu fenotip Patau:
Answer
  • 47,XY,+13
  • 47,XXY
  • 47,XX,+21
  • 46,XX,i(13p)
  • 45,XY,-13

Question 31

Question
Cariotipuri asociate cu ACM letale:
Answer
  • 47,XY,+8
  • 47,XX,+21
  • 47,XXY
  • 45,XY,-4
  • 46,XX,i(21p)

Question 32

Question
Identificati cariotipul cu trisomie letala:
Answer
  • 47,XYY
  • 47,XXX
  • 47,XX, +21
  • 47,XXY
  • 47,XY,+22

Question 33

Question
Alegeti cariotipurile ce se pot asocia cu fenotip Turner:
Answer
  • 46,X,r(X)
  • 45,XX,-8
  • 45,X
  • 45,XY,-15
  • 46,X,i(Yq)

Question 34

Question
Selectati cariotipuri asociate cu test Barr pozitiv:
Answer
  • 47,XYY
  • 46,X,i(Xp)
  • 48,XXXY
  • 47,XX,+21
  • 47,XXY

Question 35

Question
Estimati consecintele trisomiei crs.5
Answer
  • Letale
  • Sdr. Cri-du-chat
  • Sdr.Angelman
  • Fenotip normal
  • Sindrom plurimalformativ

Question 36

Question
Selectati enunturile ce caracterizeaza cromatina sexuala X:
Answer
  • Cromocentru prezent in nucleul celulei interfazice
  • Un corpuscul de heterocromatina
  • Un corpuscul de eucromatina
  • Cromocentru prezent in nucleul celulei metafazice
  • Heterocromatina facultativa

Question 37

Question
Identificati cariotipurile cu anomalii cromosomiale letale:
Answer
  • 45,XX,-9
  • 47,XY,+21/46,XY
  • 50, XXXXYY
  • 45,X
  • 47,XX,+8

Question 38

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 39

Question
Un baiat cu sindrom Down are:
Answer
  • 6 crs in gr A
  • 15 crs in gr C
  • 6 crs in gr D
  • 5 crs in grupa G
  • 4 crs in grupa B

Question 40

Question
Genomul unei persoane este definit de: ---------
Answer
  • setul de 23 cromozomi -------
  • setul de 46 cromozomi ---------
  • totalitatea mol de ADN nuclear si mitocondrial
  • totaliatea caracterelor determinate de genotip si plasmotip
  • Totalitatea celor 30000 perechi de gene -----

Question 41

Question
Identificati cariotipuri ce determina dezvoltare normala:
Answer
  • 47,XXX/45,X
  • 47,XXY
  • 46,X,Yq-
  • 46,X,r(X)
  • 46,X,Xp+

Question 42

Question
Identificati cariotipurile cu trisomii letale:
Answer
  • 47,XY,+6
  • 47,XX,+15
  • 47,XX,+18
  • 47,XYY
  • 47,XY,+3

Question 43

Question
Identificati tehnica de cariotipare:
Image:
Screenshot+2022 02 04+At+22.58.05 (binary/octet-stream)
Answer
  • Colorarea in benzi a crs prometafazici
  • FISH
  • SKY
  • Colorarea in benzi a crs metafazici
  • Colorarea uniforma a crs metafazici

Question 44

Question
Selectati cariotipul asociat cu fenotip Turner:
Answer
  • 47,XXY
  • 47,XXX
  • 46,X,i(Xp)
  • 47,XYY
  • 48,XXXY

Question 45

Question
Selectati cariotipuri asociate cu fenotip normal:
Answer
  • 46,XY
  • 46,XY,9qh-
  • 46,XX,i(11q)
  • 46,XX,14p-
  • 46,XY,inv(6p)

Question 46

Question
Alegeti cariotipurile ce se pot asocia cu fenotip Patau:
Answer
  • 46,XY,i(13q)
  • 47,XY,+13
  • 46,XY,dup(13p)
  • 46,XY,dup(13q)
  • 46,XY/47,XY,+13

Question 47

Question
Selectati cariotipuri asociate cu fenotip Down:
Answer
  • 46,XX,i(21q)
  • 47,XX,+21
  • 47,XY,+13
  • 45,XY,-21
  • 47,XXY

Question 48

Question
Identificati tehnica de cariotipare:
Image:
Screenshot+2022 02 04+At+23.21.08 (binary/octet-stream)
Answer
  • PCR
  • SKY
  • Testul F
  • Testul Barr
  • FISH

Question 49

Question
Pentru diagnosticul prenatal al s. Klinefelter putem recomanda urmatoarele metode genetice:
Answer
  • Bandarea crs Q
  • PCR
  • Secventierea ADN
  • Testul Barr
  • FISH
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