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
23
Q
dubin-johnson syndrome
A
AR
24
Q
fragile x syndrome
A
XLR
25
familial hypercholesterolemia
AD
26
ataxia telengiectasia
AR
27
NF type 1 and 2
AD
28
G6PD
XLR
29
incidence live birth rate turner syndrome
1/2500
30
incidence live birth rate edward syndrome
1/3000
31
marfan syndrome
AD
32
PKU
AR
33
gilberts syndrome
AD
34
DMD
XLR
35
detection rate quad test
70-75%
36
alkaptonuria
AR
37
glycogen storage diseases
AR
38
fanconi's anemia
AR
39
incidence live birth rate multiple y
1/1000
40
wilson disease
AR
41
incidence live birth rate klinefelters
1/1000
42
red-green colour blindness
XLR
43
vWD (Type 1 and 2)
AD
44
galactosemia
AR
45
BRCA
AD
46
hemochromatosis
AR
47
spinal muscular atrophy
AR
48
homocystinuira
AR
49
hunter's syndrome
XLR
50
myotonic dystrophy
AD
51
quad test
bHCG, estriol, AFP, inhibin A
| 15-20/40
52
APCKD
AD
53
tuberous sclerosis
AD
54
detection rate triple test
65-70%
55
huntington's chorea
AD
56
Rett syndrome
XLD
57
testicular feminisation syndrome
XLR
