Inheritance

Question 1

Androgen insensitivity

Answer 1

X-linked recessive

Question 2

Becker muscular dystrophy

Answer 2

X-linked recessive

Question 3

Duchenne muscular dystrophy

Answer 3

X-linked recessive

Question 4

Fabry

Answer 4

X-linked recessive

Question 5

G6PD deficiency

Answer 5

X-linked recessive

Question 6

Haemophilia A

Answer 6

X-linked recessive

Question 7

Haemophilia B

Answer 7

X-linked recessive

Question 8

Nephrogenic diabetes insipidus

Answer 8

X-linked recessive

Question 9

Lesch-Nyhan

Answer 9

X-linked recessive

Question 10

Alport

Answer 10

X-linked dominant

Question 11

Rett syndrome

Answer 11

X-linked dominant

Question 12

Sickle cell anaemia

Answer 12

Autosomal recessive

Question 13

Congenital adrenal hyperplasia

Answer 13

Autosomal recessive

Question 14

Friedreich’s ataxia

Answer 14

Autosomal recessive

Question 15

Haemochromotosis

Answer 15

Autosomal recessive

Question 16

Wilson’s

Answer 16

Autosomal recessive

Question 17

Homocystinuria

Answer 17

Autosomal recessive

Question 18

Tay-sachs

Answer 18

Autosomal recessive

Question 19

Familial adenomatous polyposis

Answer 19

Autosomal dominant

Question 20

Hereditary haemorrhagic telangiectasia

Answer 20

Autosomal dominant

Question 21

Hereditary spherocytosis

Answer 21

Autosomal dominant

Question 22

Huntington’s

Answer 22

Autosomal dominant

Question 23

Marfan’s

Answer 23

Autosomal dominant

Question 24

Myotonic dystrophy

Answer 24

Autosomal dominant

Question 25

Tuberous sclerosis

Answer 25

Autosomal dominant

Question 26

Osteogenesis imperfecta

Answer 26

Autosomal dominant

Question 27

Peutz-Jeghers

Answer 27

Autosomal dominant

Question 28

Von willebrand

Answer 28

Autosomal dominant

Question 29

Noonan

Answer 29

Autosomal dominant

Question 30

Down’s syndrome

Answer 30

T21

Question 31

Edwards’s syndrome

Answer 31

T18

Question 32

Patau syndrome

Answer 32

T13

Question 33

Prader-Willi

Answer 33

Imprinting. Deletion paternal chr 15 or maternal disomy chr 15 (no paternal contribution)

Question 34

Angelman

Answer 34

Imprinting. Deletion maternal chr 15 or paternal disomy (no maternal contribution)