Chromosomal abnormalities Flashcards

1
Q

Presenilin 2 (Alz)

A

1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

DISC-1 (Scz & BAD)

A

1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

DISC-2 (Scz)

A

1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

RGS-4 (Scz- interacts with neuregulin)

A

1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Associated with ASD (4)

A

2
7
16
19

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Von-Hippel Lindau

A

3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Huntington, Wolf-Hirschorn

A

4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Cri-du-chat

A

5 (terminal deletion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Dysbindin (Scz)

A

6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

PREP (mood disorder)

A

6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Williams syndrome

A

7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Neuregulin 1 (Scz and BAD)

A

8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Tuberous sclerosis 1

A

9

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

BDNF (rapid cycling BAD)

A

11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Associated with neurotic trait

A

12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Patau (trisomy)

17
Q

Wilson’s (ATP7B)

18
Q

DAO-A (Scz & BAD)

19
Q

Presenilin-1 (Alz)

20
Q

Prader willi

A

Paternal 15

21
Q

Angelman

A

Maternal 15

22
Q

Tuberous sclerosis II

23
Q

Familial FTD (progranulin, MAPT)

24
Q

Smith-Magenis

25
Neurofibromatosis 1
17
26
Edwards (trisomy)
18
27
APoE (Alz, DLB, Vasc)
19
28
NOTCH-3 (CADASIL)
19
29
PrP (inherited CJD)
20
30
APP (Alz)
21
31
Neurofibromatosis 2
22
32
DiGeorge
22
33
COMT (Scz and BAD)
22
34
Lesch-Nyhan
Xq 26-27
35
Rett
Xq 28
36
Klinefelter
47 XXY
37
Jacob's
47 XYY
38
Turner
45 XO
39
Niemann pick
11