chromosomal disorders Flashcards
(20 cards)
1
Q
VHL disease
A
3
2
Q
Renal cell carcinoma
A
3
3
Q
ADPKD with PKD2 defect
A
4
4
Q
huntingdon disease
A
4
5
Q
cri du chat
A
5
6
Q
FAP
A
5
7
Q
williams
A
7
8
Q
cystic fibrosis
A
7
9
Q
friedreich ataxia
A
9
10
Q
wilms tumor
A
11
11
Q
patau syndrome
A
13
12
Q
wilson disease
A
13
13
Q
prader willi
angelman
A
15
14
Q
ADPKD with PKD1 defect
A
16
15
Q
NF1
A
17
16
Q
EDWARDS
A
18
17
Q
DOWN
A
21
18
Q
NF2
A
22
19
Q
DiGeorge
A
22q11
20
Q
fragile X, X linked agammaglobinemia, Klinefelter (XXY)
A
X
