Chromosomes involved in given diseases Flashcards
1
Q
NF2
A
Chromosome 22
2
Q
Patau
A
Trisomy 13
3
Q
Edwards syndrome
A
Trisomy 18
4
Q
Friedreich’s ataxia
A
Chromosome 9 (frataxin gene)
5
Q
Huntington’s Disease
A
Chromosome 4
6
Q
VHL
A
Chromosome 3, RCCA
7
Q
ADPKd
A
Chromosome 16 for PKD1 (more common)
8
Q
FAP
A
APC mutation on chromosome 5
9
Q
CF
A
CFTR mutation on Chromosome 7
10
Q
Wilms tumor
A
chromosome 11
11
Q
Wilson disease
A
Chromosome 13
12
Q
Prader-Willi and Angelman
A
Chromsome 15
13
Q
NF1
A
chromosome 17
14
Q
DiGeorge
A
Chromosome 22
15
Q
MEN1
A
Chrom 11
pituitary, parathyroid, pancreas