Autosomal dominant chromosomes Flashcards
1
Q
ADPKD
A
mutation in PKD1, Ch 16, 16 letters in polycystic kidney
2
Q
Familial adenomatous polypsis
A
APC, Ch 5, 5 letters in polyp
3
Q
NF1 (von Recklinghausen’s)
A
long arm of Ch 17, 17 letters in von Reklinghausen.
4
Q
NF2
A
Bilateral acoustic schwannomas, juvenile cataract
NF2 on Ch 22, type 2=22
5
Q
VHL
A
Ch3, 3 words for VHL
6
Q
Cri-du-chat
A
Microdeletion of short arm of Ch 5
7
Q
Williams syndrome
A
Microdeletion of long arm of Ch 7
