Genetica umana - Totalizarea 1 Tema 2

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

	Created by Ariana Pantaz almost 3 years ago

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Genetica umana - Totalizarea 1 Tema 2

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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

Question 31

Question 32

Question 33

Question 34

Question 35

Question 36

Question 37

Question 38

Question 39

Question 40

Question 41

Question 42

Question 43

Question 44

Question 45

Question 46

Question 47

Question 48

Question 49

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