1
Q
3
A
VHL, RCC
2
Q
4
A
Huntington’s, achondroplasia, ADPKD (PKD2)
3
Q
5
A
FAP, Cri-du-chat (little arm 5p deletion) = high-pitched cry + VSD
4
Q
6
A
HemochromatoSIX (HFE)
5
Q
7
A
Williams syndrome (long arm including elastin gene) = VERY FRIENDLY ELF, cystic fibrosis = WILLIAMS SISTERS!
6
Q
9
A
Friedreich ataxia (GAA)
7
Q
11
A
Wilms tumor, Beta-globin gene defects (…MEN1?)
8
Q
13
A
BRCA2, Patau, Wilson’s, retinoblastoma (RB1)
9
Q
15
A
Prader-Wili, Angelman, Marfan
10
Q
16
A
ADPKD (PKD1) and alpha-globin gene defects
11
Q
17
A
BRCA1, p53, Neurofibromatosis type 1
12
Q
18
A
Edwards
13
Q
21
A
Down syndrome
14
Q
22
A
DiGeorge, Neurofibromatosis type 2
15
Q
X
A
Fragile X (dom), Bruton’s agammaglobulinemia, Klinefelter
