chromosomal abnormalities and disorders Flashcards
1
Q
DiGeorge Syndrome
A
d22q11.2
2
Q
Downs Syndrome
A
Trisomy 21
3
Q
Cri du Chat
A
d5
4
Q
Charcot-Marie-Tooth
A
dup17p
5
Q
Gaucher’s Disease
A
mut1q22
6
Q
Prader-Willi Syndrome
A
pat del15q11-q13,;mat15 imprinted (or maternal disomy 15, imprinted *2)
7
Q
Angelman Syndrome
A
mat del15q11-q13;pat15 imprinted (or paternal disomy 15, imprinted *2)
8
Q
Turner Syndrome
A
45X-;XO
9
Q
Tay-Sachs
A
mut15*2
10
Q
alpha heme gene location
A
chromosome 16
11
Q
beta heme gene location
A
chromosome 11
12
Q
ATD (alpha1-antitrypsin deficiency)
A
chromosome 14
13
Q
Duchenne Muscular Dystrophy (DMD)
A
Xp21
14
Q
Patau Syndrome
A
Trisomy 13
15
Q
Edwards Syndrome
A
Trisomy 18
