Genetic Disorders

Question 1

Albinism

Answer 1

Autosomal recessive

Question 2

ataxic telangectasia

Answer 2

autosomal recessive

Question 3

Congenital adrenal hyperplasia

Answer 3

autosomal recessive

Question 4

cystic fibrosis

Answer 4

autosomal recessive

Question 5

Cystinuria

Answer 5

autosomal recessive

Question 6

Familial Mediterranean Fever

Answer 6

autosomal recessive

Question 7

Fanconi anaemia

Answer 7

autosomal recessive

Question 8

Friedreich’s ataxia

Answer 8

autosomal recessive

Question 9

Gilbert’s syndrome

Answer 9

autosomal recessive

Question 10

Glycogen storage disease

Answer 10

autosomal recessive

Question 11

Haemochromatosis

Answer 11

autosomal recessive

Question 12

Homocystinuria

Answer 12

autosomal recessive

Question 13

Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick

Answer 13

autosomal recessive

Question 14

Mucopolysaccharidoses: Hurler’s

Answer 14

autosomal recessive

Question 15

PKU

Answer 15

autosomal recessive

Question 16

Sickle cell anaemia

Answer 16

autosomal recessive

Question 17

Thalassaemias

Answer 17

autosomal recessive

Question 18

Wilson’s disease

Answer 18

autosomal recessive

Question 19

Achondroplasia

Answer 19

autosomal dominant

Question 20

Acute intermittent porphyria

Answer 20

autosomal dominant

Question 21

Antithrombin III deficiency

Answer 21

autosomal dominant

Question 22

Adult polycystic disease

Answer 22

autosomal dominant

Question 23

Ehlers-Danlos syndrome

Answer 23

autosomal dominant

Question 24

Familial adenomatous polyposis

Answer 24

autosomal dominant

Question 25

Hereditary haemorrhagic telangiectasia

Answer 25

autosomal dominant

Question 26

Hereditary spherocytosis

Answer 26

autosomal dominant

Question 27

Hereditary non-polyposis colorectal carcinoma

Answer 27

autosomal dominant

Question 28

Huntington's disease

Answer 28

autosomal dominant

Question 29

Hyperlipidaemia type II

Answer 29

autosomal dominant

Question 30

Hypokalaemic periodic paralysis

Answer 30

autosomal dominant

Question 31

Malignant hyperthermia

Answer 31

autosomal dominant

Question 32

Marfan's syndromes

Answer 32

autosomal dominant

Question 33

Myotonic dystrophy

Answer 33

autosomal dominant

Question 34

Neurofibromatosis

Answer 34

autosomal dominant

Question 35

Noonan syndrome

Answer 35

autosomal dominant

Question 36

Osteogenesis imperfecta

Answer 36

autosomal dominant

Question 37

Peutz-Jeghers syndrome

Answer 37

autosomal dominant

Question 38

Retinoblastoma

Answer 38

autosomal dominant

Question 39

Romano-Ward syndrome

Answer 39

autosomal dominant

Question 40

tuberous sclerosis

Answer 40

autosomal dominant

Question 41

Von Hippel-Lindau syndrome

Answer 41

autosomal dominant

Question 42

Von Willebrand's disease*

Answer 42

autosomal dominant

Question 43

Androgen insensitivity syndrome

Answer 43

X-linked recessive

Question 44

Becker muscular dystrophy

Answer 44

X-linked recessive

Question 45

Colour blindness

Answer 45

X-linked recessive

Question 46

Duchenne muscular dystrophy

Answer 46

X-linked recessive

Question 47

Fabry's disease

Answer 47

X-linked recessive

Question 48

G6PD deficiency

Answer 48

X-linked recessive

Question 49

Haemophilia A,B

Answer 49

X-linked recessive

Question 50

Hunter's disease

Answer 50

X-linked recessive

Question 51

Lesch-Nyhan syndrome

Answer 51

X-linked recessive

Question 52

Nephrogenic diabetes insipidus

Answer 52

X-linked recessive

Question 53

Ocular albinism

Answer 53

X-linked recessive

Question 54

Retinitis pigmentosa

Answer 54

X-linked recessive

Question 55

Wiskott-Aldrich syndrome

Answer 55

X-linked recessive

Question 56

Alport syndrome

Answer 56

X-linked dominant

Question 57

Rett syndrome

Answer 57

X-linked dominant

Question 58

Rett syndrome

Answer 58

X-linked dominant

Question 59

Vitamin-D resistant rickets

Answer 59

X-linked dominant

Question 60

Leber's optic atrophy

Answer 60

mitochondrial

Question 61

MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

Answer 61

mitochondrial

Question 62

MERRF syndrome: myoclonus epilepsy with ragged-red fibres

Answer 62

mitochondrial

Question 63

Kearns-Sayre syndrome: onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen

Answer 63

mitochondrial

Question 64

sensorineural hearing loss

Answer 64

mitochondrial