Chromosomes Flashcards
1
Q
Alpha thalassamia?
A
chromosome 16
2
Q
Turner’s?
A
45,XO
3
Q
Klinefelter?
A
47,XXY
4
Q
Beta thalassaemia?
A
chromosome 11
5
Q
CML?
A
chromosome 22
(philadelphia chromosome forms a fusion gene on BCR/ABL)
6
Q
Crohn’s?
A
chromosome 16
(NOD2 mutation)
7
Q
Haemochromatosis?
A
chromosome 6
(HFE mutation)
8
Q
Wilson’s?
A
chromosome 13
9
Q
Alpha-1-antitrypsin deficiency?
A
chromosome 14
10
Q
ADPKD?
A
chromosome 16
11
Q
ARPKD?
A
chromosome 6
12
Q
HD?
A
chromosome 4
(CAG repeates in huntingtin gene)
13
Q
Charcot-Marie-Tooth?
A
chromosome 17
14
Q
CF?
A
chromosome 7
(F508 deletion)
15
Q
vWD: mode of inheritance?
A
autosomal dominant
16
Q
Haemophilia: mode of inheritance?
A
X-linked recessive
17
Q
What chromosome is HLA-B27 on?
A
chromosome 6
18
Q
MEN-1?
A
pituitary/pancreas/parathyroid cancer
19
Q
MEN-2?
A
thyroid/parathyroid cancer
