Genetics

Question 1

What is the genetics of Achondroplasia?

Answer 1

Autosomal dominant

Question 2

What is the genetics of Acute intermittent porphyria?

Answer 2

Autosomal dominant

Question 3

What is the genetics of Adult polycystic disease?

Answer 3

Autosomal dominant

Question 4

What is the genetics of Antithrombin III deficiency?

Answer 4

Autosomal dominant

Question 5

What is the genetics of Ehlers-Danlos syndrome?

Answer 5

Autosomal dominant

Question 6

What is the genetics of Familial adenomatous polyposis?

Answer 6

Autosomal dominant

Question 7

What is the genetics of Hereditary haemorrhagic telangiectasia?

Answer 7

Autosomal dominant

Question 8

What is the genetics of Hereditary spherocytosis?

Answer 8

Autosomal dominant

Question 9

What is the genetics of Hereditary non-polyposis colorectal carcinoma?

Answer 9

Autosomal dominant

Question 10

What is the genetics of Huntington’s disease?

Answer 10

Autosomal dominant

Question 11

What is the genetics of Hyperlipidaemia type II?

Answer 11

Autosomal dominant

Question 12

What is the genetics of Hypokalaemic periodic paralysis?

Answer 12

Autosomal dominant

Question 13

What is the genetics of Malignant hyperthermia?

Answer 13

Autosomal dominant

Question 14

What is the genetics of Marfan’s syndromes?

Answer 14

Autosomal dominant

Question 15

What is the genetics of Myotonic dystrophy?

Answer 15

Autosomal dominant

Question 16

What is the genetics of Neurofibromatosis?

Answer 16

Autosomal dominant

Question 17

What is the genetics of Noonan syndrome?

Answer 17

Autosomal dominant

Question 18

What is the genetics of Osteogenesis imperfecta?

Answer 18

Autosomal dominant

Question 19

What is the genetics of Peutz-Jeghers syndrome?

Answer 19

Autosomal dominant

Question 20

What is the genetics of Retinoblastoma?

Answer 20

Autosomal dominant

Question 21

What is the genetics of Romano-Ward syndrome?

Answer 21

Autosomal dominant

Question 22

What is the genetics of Von Hippel-Lindau syndrome?

Answer 22

Autosomal dominant

Question 23

What is the genetics of Tuberous Sclerosis?

Answer 23

Autosomal dominant

Question 24

What is the genetics of Won Willebrands disease?

Answer 24

Autosomal dominant

*type 3 von Willebrand’s disease (most severe form) is inherited as an autosomal recessive trait. Around 80% of patients have type 1 disease

Question 25

What is the genetics of Albinism?

Answer 25

Autosomal recessive

Question 26

What is the genetics of Ataxic telangiectasia?

Answer 26

Autosomal recessive

Question 27

What is the genetics of Congenital adrenal hyperplasia?

Answer 27

Autosomal recessive

Question 28

What is the genetics of Cystic fibrosis?

Answer 28

Autosomal recessive

Question 29

What is the genetics of Cystinuria?

Answer 29

Autosomal recessive

Question 30

What is the genetics of Familial Mediterranean Fever?

Answer 30

Autosomal recessive

Question 31

What is the genetics of Fanconi anaemia?

Answer 31

Autosomal recessive

Question 32

What is the genetics of Friedreich’s ataxia?

Answer 32

Autosomal recessive

Question 33

What is the genetics of Gilbert’s syndrome?

Answer 33

Autosomal recessive

Question 34

What is the genetics of Glycogen storage disease?

Answer 34

Autosomal recessive

Question 35

What is the genetics of Haemochromatosis?

Answer 35

Autosomal recessive

Question 36

What is the genetics of Homocystinuria?

Answer 36

Autosomal recessive

Question 37

What is the genetics of Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick?

Answer 37

Autosomal recessive

Question 38

What is the genetics of Mucopolysaccharidoses: Hurler’s?

Answer 38

Autosomal recessive

Question 39

What is the genetics of PKU?

Answer 39

Autosomal recessive

Question 40

What is the genetics of Sickle cell anaemia?

Answer 40

Autosomal recessive

Question 41

What is the genetics of Thalassaemias?

Answer 41

Autosomal recessive

Question 42

What is the genetics of Wilson’s disease?

Answer 42

Autosomal recessive