chromosomal disorders Flashcards

1
Q

VHL disease

A

3

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2
Q

Renal cell carcinoma

A

3

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3
Q

ADPKD with PKD2 defect

A

4

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4
Q

huntingdon disease

A

4

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5
Q

cri du chat

A

5

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6
Q

FAP

A

5

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7
Q

williams

A

7

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8
Q

cystic fibrosis

A

7

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9
Q

friedreich ataxia

A

9

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10
Q

wilms tumor

A

11

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11
Q

patau syndrome

A

13

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12
Q

wilson disease

A

13

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13
Q

prader willi

angelman

A

15

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14
Q

ADPKD with PKD1 defect

A

16

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15
Q

NF1

A

17

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16
Q

EDWARDS

A

18

17
Q

DOWN

A

21

18
Q

NF2

A

22

19
Q

DiGeorge

A

22q11

20
Q

fragile X, X linked agammaglobinemia, Klinefelter (XXY)

A

X