chr number Flashcards
1
Q
von hippel disease
A
ch 3
2
Q
renal cell carcinoma
A
ch 3
3
Q
huntington
A
chr4
4
Q
achondroplasia
A
chr 4
5
Q
ADPKD
A
ch4(less common) and chr 16 (more common )
6
Q
cri du chat
A
chr 5
7
Q
FAP
A
chr 5
8
Q
hemachromatosis
A
chr 6
9
Q
williams syndrome
A
ch 7
notes - elfin-friendly with strangers-HYPErcalcemia
10
Q
cystic fibrosis
A
chr 7
11
Q
friedrich ataxia
A
chr 9
12
Q
tuberous sclerosis 1 and 2
A
chr 9 , 16
13
Q
willms tumor
A
chr 11
14
Q
b globin gene
A
chr 11
15
Q
b thalessemia
A
chr 11
16
Q
men 1
A
chr 11
17
Q
patau syndromw
A
13
18
Q
wilson syndrome
A
13
19
Q
retinoblastoma
A
13
20
Q
brca2
A
13
21
Q
praderwilli
A
15
22
Q
angelman
A
15
23
Q
marfan
A
15
24
Q
a globin gene defect
A
16
25
neurofibromatosis 1`
17
26
BRCA 1
17
27
p53
17
28
edwards
18
29
down syndrome
21
30
NF2
22
31
digeorge
22
32
chr 3
von hipple lindau, renal cell carcinoma
33
4
ADPKD (PKD2), achondroplasia, Huntington disease
34
5
Cri-du-chat syndrome, familial adenomatous polyposis
35
6
I lemochromatosis (HFE
36
7
Williams syndrome, cystic fibrosis
37
9
Friedreich ataxia, tuberous sclerosis (TSCI
38
11
Wilms tumor, P-globin gene defects (eg, sickle cell disease, P-thalassemia), MEN1
39
13
Patau syndrome, Wilson disease, retinoblastoma (RBI), BRCA2
40
15
Prader-Willi syndrome, Angel man syndrome, Marfan syndrome
41
16
ADPKD (PKDI), a-globin gene defects (eg, a-thalassemia), tuberous sclerosis (TSC2
42
17
Neurofibromatosis type I, BRCAl, P53
43
18
Edwards syndrome
44
21
vDown syndrome
45
22
Neurofibromatosis type 2, DiCeorge syndrome (22ql I)
46
x
Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY
47
williams, wilms and wilson chromsomes
williams --7
wilms-11
wilson-13
