USMLE > Chromosomes > Flashcards

Chromosomes Flashcards

(14 cards)

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1
Q

3

A

vHL, renal cell carcinoma

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2
Q

4

A

ADPKD with PKD2 defect

Huntington

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3
Q

5

A

Cri du chat

FAP

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4
Q

7

A

Williams

CF

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5
Q

9

A

Friedrich ataxia

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6
Q

11

A

Wilms

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7
Q

13

A

Patau

Wilson

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8
Q

15

A

Prader Willi

Angelman

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9
Q

16

A

ADPKD with PKD1

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10
Q

17

A

NF1

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11
Q

18

A

Edwards

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12
Q

21

A

Down

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13
Q

22

A

NF2

DiGeorge

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14
Q

X

A 
OTC deficiency
Fabry
Wiskott-Aldrich
Ocular albinism
G6PD
Hemophilia A&B
Bruton's
Hunter
Lesch-Nyhan
Muscular dystrophy
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