Chromosomal Abnormalities Flashcards
1
Q
Alzheimer Disease (Presenilin 2)
A
1
2
Q
Von Hippel Lindau (VHL)
A
3
3
Q
Huntington Disease (CAG repeat)
A
4
4
Q
FAP (APC)
A
5
5
Q
Williams syndrome (deleted elastin)
A
7
6
Q
Cystic Fibrosis (CTFR - Phe508 deletion)
A
7
7
Q
Burkitt Lymphoma (c-myc)
A
8
8
Q
Friedreich Ataxia (GAA repeat - Frataxin)
A
9
9
Q
MEN 2 (RET)
A
10
10
Q
Wilms Tumor (WT1)
A
11
11
Q
Prader Willi (Maternal imprinting)
A
15
12
Q
ADPKD (PKD1)
A
16
13
Q
Neurofibromatosis 1 (NF1 -> neuorofibromin)
A
17
14
Q
Edwards (Trisomy)
A
18
15
Q
Alzheimer Disease (APP)
A
21
16
Q
Patau (Trisomy)
A
13
17
Q
Neurofibromatosis 2 (NF2 -> merlin)
A
22
18
Q
Alzheimer Disease (Presenilin 1)
A
14
19
Q
Peutz Jeghers (STK11)
A
19
20
Q
ADPKD (PKD2)
A
4
21
Q
Cri du Chat (Short arm deletion)
A
5
22
Q
B thalassemia (point mutation)
A
11
23
Q
Mantle Cell Lymphoma (Cyclin D)
A
11
24
Q
Angelman (Paternal imprinting)
A
15
25
Marfan Syndrome (FBN1)
15
26
Down Syndrome (Trisomy)
21
27
a thalassemia (gene deletion)
16
28
Fragile X (FMR1)
X
29
Bruton agammaglobulinemia
X
30
Ornithine transcarbamylase deficiency
X
31
Wiskott Aldrich
X
32
G6PD
X
33
Hemophilia A
X
34
Hemophilia A
X
35
Hunter
X
36
Fabry
X
37
Becker (insertions - Dystrophin)
X
38
Duchenne (frameshift - truncated Dystrophin)
X
39
Lesch-nyhan
X
40
Retinoblastoma (Rb)
13
41
Wilson Disease (ATP7B)
13
42
Dysplastic Nevus Syndrome (CDK2A)
9
