Chromosome Specific Pathologic Genetic Associations Flashcards
1
Q
von Hippel-Lindau disease
A
Chromosome 3
2
Q
Renal Cell Carcinoma
A
Chromosome 3
3
Q
Huntington Disease
A
Chromosome 4
4
Q
ADPKD w/ PKD2
A
Chromosome 4
5
Q
Cri-du-chat syndrome
A
Chromosome 5
6
Q
Familial adenomatous polyposis (APC)
A
Chromosome 5
7
Q
Williams syndrome
A
Chromosome 7 (William has 7 letters)
8
Q
Cystic Fibrosis (CFTR)
A
Chromosome 7
9
Q
Friedreich ataxia
A
Chromosome 9
10
Q
Wilms tumor
A
Chromosome 11
11
Q
Patau Syndrome
A
Chromosome 13, Trisomy
12
Q
Prader-Willi/Angelman syndrome
A
Chromosome 15
13
Q
ADPKD w/ PKD1
A
Chromosome 16
14
Q
Neurofibromatosis type 1 (NF1)
usually NO hearing loss
A
Chromosome 17, autosomal dominant, 50% mutations
15
Q
Edwards Syndrome
A
Chromosome 18, Trisomy
