Chromosomal abnormalities Flashcards

1
Q

Presenilin 2 (Alz)

A

1

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2
Q

DISC-1 (Scz & BAD)

A

1

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3
Q

DISC-2 (Scz)

A

1

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4
Q

RGS-4 (Scz- interacts with neuregulin)

A

1

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5
Q

Associated with ASD (4)

A

2
7
16
19

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6
Q

Von-Hippel Lindau

A

3

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7
Q

Huntington, Wolf-Hirschorn

A

4

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8
Q

Cri-du-chat

A

5 (terminal deletion)

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9
Q

Dysbindin (Scz)

A

6

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10
Q

PREP (mood disorder)

A

6

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11
Q

Williams syndrome

A

7

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12
Q

Neuregulin 1 (Scz and BAD)

A

8

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13
Q

Tuberous sclerosis 1

A

9

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14
Q

BDNF (rapid cycling BAD)

A

11

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15
Q

Associated with neurotic trait

A

12

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16
Q

Patau (trisomy)

A

13

17
Q

Wilson’s (ATP7B)

A

13

18
Q

DAO-A (Scz & BAD)

A

13

19
Q

Presenilin-1 (Alz)

A

14

20
Q

Prader willi

A

Paternal 15

21
Q

Angelman

A

Maternal 15

22
Q

Tuberous sclerosis II

A

16

23
Q

Familial FTD (progranulin, MAPT)

A

17

24
Q

Smith-Magenis

A

17

25
Q

Neurofibromatosis 1

A

17

26
Q

Edwards (trisomy)

A

18

27
Q

APoE (Alz, DLB, Vasc)

A

19

28
Q

NOTCH-3 (CADASIL)

A

19

29
Q

PrP (inherited CJD)

A

20

30
Q

APP (Alz)

A

21

31
Q

Neurofibromatosis 2

A

22

32
Q

DiGeorge

A

22

33
Q

COMT (Scz and BAD)

A

22

34
Q

Lesch-Nyhan

A

Xq 26-27

35
Q

Rett

A

Xq 28

36
Q

Klinefelter

A

47 XXY

37
Q

Jacob’s

A

47 XYY

38
Q

Turner

A

45 XO

39
Q

Niemann pick

A

11