Disorder --> Chromosome Number Flashcards
1
Q
Beta globin genes
A
Chromosome 11
2
Q
Downs Syndromes
A
Trisomy 21
3
Q
Patau Syndrome
A
Trisomy 13
4
Q
Cri du Chat syndrome
A
Deletion of short arm of chromosome 5
5
Q
Klinefelter syndrome
A
Extra X (XXY)
6
Q
Turner Syndrome
A
45 X (monosomy X)
7
Q
Marfan Syndrome
A
Chromosome 15 (fibrilin I gene)
8
Q
Huntington disease
A
Chromosome 4 (CAG repeats)
9
Q
Cystic fibrosis
A
Chromosome 7
10
Q
Fragile X
A
Constriction on long arm of X contains higher than normal CGG repeats (>230, normal is 29(
11
Q
Prader-Willi syndrome
A
Deletion on paternal 15
12
Q
Angelman syndrome
A
Deletion on maternal 15
13
Q
Long colonic form of Hirschsprung disease
A
10 q 11.2 RET gene
EDNRB or EDN3 gene mutations
14
Q
Type 1 Diabetes Mellitus
A
HLA-DR3, HLA-DR4, HLA class II locus
15
Q
Alzheimer Disease (early onset)
A
Chromosome 19 APOE gene (Epsilon 4)
