Chromosomal Disorders Flashcards
1
Q
Chromosome 4
A
ADPKD with PKD2 mutation, Huntingtons
2
Q
Chromosome 5
A
Cru du chat, Familial Adenomatous Polyposis
3
Q
Chromosome 7
A
Cystic Fibrosis, William syndrome
4
Q
Chromosome 9
A
Friedrich ataxia
5
Q
Chromosome 11
A
Wilms tumor
6
Q
Chromosome 13
A
Patau, Wilson disease
7
Q
Chromosome 15
A
Prader-willi, Angelman, Marfans
8
Q
Chromsome 16
A
ADPKD with PKD1 defect
9
Q
NF1
A
Chromsome 17
10
Q
Chromsome 18
A
Edwards
11
Q
Chromsome 21
A
Downs
12
Q
Chromsome 22
A
NF2, DiGeorge
13
Q
Chromosome 3
A
VHL, renal cell carcinoma