Disease Chromosome Flashcards
1
Q
12q24
A
PHENYLKETONURIA
2
Q
9q22
A
XERODERMA PIGMENTOSUM
3
Q
BETA-GLOBULIN
A
SCA
4
Q
7q31.2
A
Cf
5
Q
FGR3
A
ACHONDROPLASIA
6
Q
LDLR
A
FAMILIAL
HYPERCHOLESTEROLEMIA
7
Q
15q21.1
A
MARFAN SYNDROME
8
Q
DMD
A
DUCHENNE MUSCULAR DYSTROPHY
9
Q
FACTOR VIII
FACTOR IX
A
HEMOPHILIA A
10
Q
FMR1
A
FRAGILE-X SYNDROME
11
Q
HPRT/HGPRT
A
LESCH-NYHAN SYNDROME
12
Q
Xp22
A
X-LINKED HYPOPHOSPHATEMIA OR
VITAMIN D RESISTANT RICKET
13
Q
PHEX
A
X-LINKED HYPOPHOSPHATEMIA OR
VITAMIN D RESISTANT RICKET
14
Q
GBM
TYPE 4 COLLAGEN
A
Alport syndrome
15
Q
phosphate regulating endopeptidase X-linked
A
X-LINKED HYPOPHOSPHATEMIA OR
VITAMIN D RESISTANT RICKETS