inheritance for some diseases Flashcards
1
Q
haemochromatosis
A
AR
2
Q
huntingtons
A
AD
3
Q
gilberts
A
AR
4
Q
FAP
A
AD
5
Q
HNPCC/lynch
A
AD
6
Q
gardners
A
AD
7
Q
alpha 1 antitrypsin deficiecny
A
AR
8
Q
wilsons
A
AR
9
Q
polycystic kidneys
A
AD
10
Q
otosclerosis
A
AD
11
Q
hereditary haemorrhagic telangiectasia
A
AD
12
Q
androgen insensitivity syndrome
A
x linked recessive
13
Q
kallman
A
XLR
14
Q
karyotype of kleinefelters
A
47 XXY male
15
Q
karyotype of turners
A
45 X
16
Q
bilateral adrenal hyperplasia
A
AR
17
Q
MODY
A
AD
18
Q
familial hypocalciuric hypocalcaemia
A
AD
19
Q
sickle cell anaemia
A
AR
20
Q
Acute intermittent porphyria (AIP)
A
AD
21
Q
G6PD
A
x linked recessive
22
Q
hereditary spherocytosis
A
autosomal dominant
23
Q
Heredity hemorrhagic telangiectasia (HHT)
A
AD
24
Q
von willebrand
A
AD
25
sideroblastic anaemia
XLR
26
genotype of a+ thalassaemia trait
1/4 alpha chains deleted
27
genotype of a0 thalassaemia trait
2/4 alpha chains deleted
28
genotype of a thalassaemia (HbH disease)
3/4 alpha chains deleted
29
genotype of Hb Barts Hydrops foetalis
all alpha chains deleted --> IUD
30
fanconi anaemia
AR
31
marfans
AD
32
achondroplasia
AD but 80% sporadic
33
osteogenesis imperfecta (brittle bone)
AD
34
ehlers danlos
AD
