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
