Chromosomal Disorders Flashcards
1
Q
Chr. 3
A
VHL
Renal Cell Carcinoma
2
Q
Chr. 4
A
ADPKD with PKD2 defect
Huntington Disease
3
Q
Chr. 5
A
Cri-du-chat Syndrome
FAP
4
Q
Chr. 7
A
Williams Syndrome ("elfin facies")
Cystic Fibrosis
5
Q
Chr. 9
A
Friedreich Ataxia
Tuberous Sclerosis
6
Q
Chr. 11
A
Wilms tumor
7
Q
Chr. 13
A
Patau Syndrome
Wilson Disease
8
Q
Chr. 15
A
Prader-Willi Syndrome
Angelman Syndrome
Marfan Syndrome
9
Q
Chr. 16
A
ADPKD with PKD1 defect
Tuberous Sclerosis
10
Q
Chr. 17
A
NF1
11
Q
Chr. 18
A
Edwards Syndrome
12
Q
Chr. 21
A
Down Syndrome
13
Q
Chr. 22
A
NF2 DiGeorge Syndrome (22q11)
14
Q
Chr. X
A
Fragile X Syndrome
X-linked Agammaglobulinemia
Klinefelter Syndrome (XXY)
