Genetics Flashcards

1
Q

von Hippel Lindau

A

3

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2
Q

Renal CC

A

3

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3
Q

ADPKD2

A

4

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4
Q

Achondroplasia

A

4

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5
Q

Huntington (chromosome)

A

4

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6
Q

Cri-du-chat

A

5

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7
Q

FAP

A

5

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8
Q

Hemochromatosis

A

6

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9
Q

Williams

A

7

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10
Q

CF

A

7

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11
Q

Friedreich ataxia (chromosome)

A

9

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12
Q

Wilms tumor

A

11

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13
Q

SCD

A

11

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14
Q

beta-Thalassemia

A

11

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15
Q

MEN1

A

11

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16
Q

Patau

A

13

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17
Q

Wilson

A

13

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18
Q

Retinoblastoma

A

13

19
Q

BRCA2

A

13

20
Q

Prader-Willi

A

15

21
Q

Angelman

A

15

22
Q

Marfan

A

15

23
Q

ADPKD1

A

16

24
Q

alpha-Thalassemia

A

16

25
Q

NF1

A

17

26
Q

BRCA1

A

17

27
Q

p53

A

17

28
Q

Edwards

A

18

29
Q

Down

A

21

30
Q

NF2

A

22

31
Q

DiGeorge

A

22

32
Q

Fragile X

A

X

33
Q

Klinefelter

A

X

34
Q

X-linked agammaglobuliemia

A

X

35
Q

CML

A

t(9,22)

36
Q

Burkitt’s

A

t(8;14)

37
Q

Ewing

A

t(11;22)

38
Q

Follicular lymphoma

A

t(14;18)

39
Q

Acute promyelocytic leukemia

A

t(15;17)

40
Q

Friederich ataxia

A

GAA

41
Q

Huntington (repeat)

A

CAG

42
Q

Fragile X (repeat)

A

CGG

43
Q

Myotonic dystrophy (repeat)

A

CTG