genetics Flashcards
1
Q
CAH
A
AR
2
Q
achondroplasia
A
AD
3
Q
vitamin d resistant rickets
A
XLD
4
Q
Fabry’s
A
XLR
5
Q
wiskott aldrich syndrome
A
XLR
6
Q
ocular albinism
A
XLR
7
Q
von hippel lindau disease
A
AD
8
Q
detection rate maternal age alone
A
30%
9
Q
CF
A
AR
10
Q
incidence live birth rate patau’s syndrome
A
1/5000
11
Q
tay-sachs
A
AR
12
Q
beta-thalassemia
A
AR
13
Q
incidence live birth rate triple x
A
1/1000
14
Q
incidence live birth rate down syndrome
A
1/700
15
Q
alpha-1-antitrypsin deficiency
A
AR
16
Q
ehlers danlos
A
AD
17
Q
becker’s muscular dystrophy
A
XLR
18
Q
combined screening test
A
NT, bHCG, PAPPA + mat age
11-13+6
19
Q
SCD
A
AR
20
Q
hemophilia
A
XLR
21
Q
detection rate combined test
A
90%
22
Q
familial adenomatous polyposis coli
A
AD
