Autosomal inheritance

Question 1

What is a general rule for remembering autosomal recessive vs autosomal dominant?

Answer 1

Autosomal recessive often thought to be “metabolic”
Autosomal dominant are “structural”

Question 2

Achondroplasia?

Answer 2

Autosomal dominant

Question 3

Acute intermittent porphyria

Answer 3

Autosomal dominant

Question 4

Albinism

Answer 4

Autosomal recessive

Question 5

Ataxic telangiectasia

Answer 5

Autosomal recessive

Question 6

Congenital adrenal hypoplasia

Answer 6

Autosomal recessive

Question 7

Adult polycystic disease

Answer 7

Autosomal dominant

Question 8

Antithrombin III deficiency

Answer 8

Autosomal dominant

Question 9

Ehlers Danlos

Answer 9

Autosomal dominant

Question 10

Familial adenomatous polyposis

Answer 10

Autosomal dominant

Question 11

Cystic fibrosis

Answer 11

Autosomal recessive

Question 12

Cystinuria

Answer 12

Autosomal recessive

Question 13

Familial Mediterranean fever

Answer 13

Autosomal recessive

Question 14

Fanconi anaemia

Answer 14

Autosomal recessive

Question 15

Hereditary haemorrhangic telangiectasia

Answer 15

Autosomal dominant

Question 16

Hereditary spherocytosis

Answer 16

Autosomal dominant

Question 17

Freidreich’s ataxia

Answer 17

Autosomal recessive

Question 18

Hereditary non-polyposis colorectal carcinoma

Answer 18

Autosomal dominant

Question 19

Huntington’s

Answer 19

Autosomal dominant

Question 20

Hyperlipidaemia type II

Answer 20

Autosomal dominant

Question 21

Glycogen storage disease

Answer 21

Autosomal recessive

Question 22

Haemochromotosis

Answer 22

Autosomal recessive

Question 23

Malignant hyperthermia

Answer 23

Autosomal dominant

Question 24

Marfan’s

Answer 24

Autosomal dominant

Question 25

Myotonic dystrophy

Answer 25

Autosomal dominant

Question 26

Homocystinuria

Answer 26

Autosomal recessive

Question 27

Lipid-storage disease

Answer 27

Autosomal recessive

Question 28

Neurofibromatosis

Answer 28

Autosomal dominant

Question 29

Noonan

Answer 29

Autosomal dominant

Question 30

Osteogenesis imperfecta

Answer 30

Autosomal dominant

Question 31

Peutz-Jeghers syndrome

Answer 31

Autosomal dominant

Question 32

Mycopolysaccharoidoses

Answer 32

Autosomal recessive

Question 33

PKU

Answer 33

Autosomal recessive

Question 34

Sickle cell anaemia

Answer 34

Autosomal recessive

Question 35

Retinoblastoma

Answer 35

Autosomal dominant

Question 36

Romano-Ward syndrome

Answer 36

Autosomal dominant

Question 37

Tuberous sclerosis

Answer 37

Autosomal dominant

Question 38

Thalassaemias

Answer 38

Autosomal recessive

Question 39

Wilson’s disease

Answer 39

Autosomal recessive

Question 40

Von Hippel-Lindau syndrome

Answer 40

Autosomal dominant

Question 41

von Willebrand’s 1 and 2

Answer 41

Autosomal dominant

Question 42

von Willebrand’s 3

Answer 42

Autosomal recessive