Genetic conditions inheritance

Question 1

Haemophilia A

Answer 1

X-linked recessive

Question 2

Huntington’s

Answer 2

Autosomal dominant

Question 3

Lynch syndrome

Answer 3

Autosomal dominant

Question 4

Congenital adrenal hyperplasia

Answer 4

Autosomal recessive

Question 5

Duchenne muscular dystrophy

Answer 5

X linked recessive

Question 6

Marfan’s

Answer 6

Autosomal dominant

Question 7

When is pregnancy contraindicated in marfan’s?

Answer 7

aortic root >4cm
(maternal mortality 25%! should wait until after aortic arch replacement surgery)

Question 8

Beckers muscular dystrophy

Answer 8

X linked recessive

Question 9

Cardiovascular complications in Turners?

Answer 9

Coarctation of the aorta
Bicuspic aortic valve
Conduction abnormalities

Question 10

Cardiac risk in Turner’s?

Answer 10

Aortic dissection

Question 11

DiGeorge syndrome karyotype and features?

Answer 11

22q11.2 deletion
Truncus arteriosus, facial features, early puberty

Question 12

Features of T13

Answer 12

Patau’s
holoprosencephaly, cleft palate, polydactyly, heart abnormalities

Question 13

Features of T18?

Answer 13

Edwards
Rocker bottom feet, micrognathia, strawb shaped skull, diaphragmatic hernia, heart abnormalities

Question 14

Colour blindness

Answer 14

X linked recessive