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CLINICAL SCIENCE > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

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Biology 101 flashcards
1
Q

Albinism

A

Autosomal recessive

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2
Q

ataxic telangectasia

A

autosomal recessive

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3
Q

Congenital adrenal hyperplasia

A

autosomal recessive

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4
Q

cystic fibrosis

A

autosomal recessive

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5
Q

Cystinuria

A

autosomal recessive

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6
Q

Familial Mediterranean Fever

A

autosomal recessive

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7
Q

Fanconi anaemia

A

autosomal recessive

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8
Q

Friedreich’s ataxia

A

autosomal recessive

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9
Q

Gilbert’s syndrome

A

autosomal recessive

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10
Q

Glycogen storage disease

A

autosomal recessive

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11
Q

Haemochromatosis

A

autosomal recessive

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12
Q

Homocystinuria

A

autosomal recessive

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13
Q

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

A

autosomal recessive

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14
Q

Mucopolysaccharidoses: Hurler’s

A

autosomal recessive

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15
Q

PKU

A

autosomal recessive

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16
Q

Sickle cell anaemia

A

autosomal recessive

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17
Q

Thalassaemias

A

autosomal recessive

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18
Q

Wilson’s disease

A

autosomal recessive

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19
Q

Achondroplasia

A

autosomal dominant

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20
Q

Acute intermittent porphyria

A

autosomal dominant

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21
Q

Antithrombin III deficiency

A

autosomal dominant

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22
Q

Adult polycystic disease

A

autosomal dominant

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23
Q

Ehlers-Danlos syndrome

A

autosomal dominant

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24
Q

Familial adenomatous polyposis

A

autosomal dominant

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25
Q

Hereditary haemorrhagic telangiectasia

A

autosomal dominant

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26
Q

Hereditary spherocytosis

A

autosomal dominant

27
Q

Hereditary non-polyposis colorectal carcinoma

A

autosomal dominant

28
Q

Huntington’s disease

A

autosomal dominant

29
Q

Hyperlipidaemia type II

A

autosomal dominant

30
Q

Hypokalaemic periodic paralysis

A

autosomal dominant

31
Q

Malignant hyperthermia

A

autosomal dominant

32
Q

Marfan’s syndromes

A

autosomal dominant

33
Q

Myotonic dystrophy

A

autosomal dominant

34
Q

Neurofibromatosis

A

autosomal dominant

35
Q

Noonan syndrome

A

autosomal dominant

36
Q

Osteogenesis imperfecta

A

autosomal dominant

37
Q

Peutz-Jeghers syndrome

A

autosomal dominant

38
Q

Retinoblastoma

A

autosomal dominant

39
Q

Romano-Ward syndrome

A

autosomal dominant

40
Q

tuberous sclerosis

A

autosomal dominant

41
Q

Von Hippel-Lindau syndrome

A

autosomal dominant

42
Q

Von Willebrand’s disease*

A

autosomal dominant

43
Q

Androgen insensitivity syndrome

A

X-linked recessive

44
Q

Becker muscular dystrophy

A

X-linked recessive

45
Q

Colour blindness

A

X-linked recessive

46
Q

Duchenne muscular dystrophy

A

X-linked recessive

47
Q

Fabry’s disease

A

X-linked recessive

48
Q

G6PD deficiency

A

X-linked recessive

49
Q

Haemophilia A,B

A

X-linked recessive

50
Q

Hunter’s disease

A

X-linked recessive

51
Q

Lesch-Nyhan syndrome

A

X-linked recessive

52
Q

Nephrogenic diabetes insipidus

A

X-linked recessive

53
Q

Ocular albinism

A

X-linked recessive

54
Q

Retinitis pigmentosa

A

X-linked recessive

55
Q

Wiskott-Aldrich syndrome

A

X-linked recessive

56
Q

Alport syndrome

A

X-linked dominant

57
Q

Rett syndrome

A

X-linked dominant

58
Q

Rett syndrome

A

X-linked dominant

59
Q

Vitamin-D resistant rickets

A

X-linked dominant

60
Q

Leber’s optic atrophy

A

mitochondrial

61
Q

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

A

mitochondrial

62
Q

MERRF syndrome: myoclonus epilepsy with ragged-red fibres

A

mitochondrial

63
Q

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

A

mitochondrial

64
Q

sensorineural hearing loss

A

mitochondrial

CLINICAL SCIENCE (11 decks)

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