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MRCP 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

Autosomal Dominant

A

‘Structural’

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2
Q

Achondroplasia

A

Autosomal Dominant

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3
Q

Acute intermittent prophyria

A

Autosomal Dominant

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4
Q

Adult PCKD

A

Autosomal Dominant

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5
Q

Antithrombin III deficiency

A

Autosomal Dominant

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6
Q

Ehlers-Danlos

A

Autosomal Dominant

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7
Q

FAP

A

Autosomal Dominant

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8
Q

Hereditary haemorrhagic telangiectasia

A

Autosomal Dominant

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9
Q

Hereditary spherocytosis

A

Autosomal Dominant

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10
Q

HNPCC

A

Autosomal Dominant

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11
Q

Huntington’s

A

Autosomal Dominant

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12
Q

Hyperlipidaemia II

A

Autosomal Dominant

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13
Q

Hypokalaemic periodic paralysis

A

Autosomal Dominant

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14
Q

Malignant hyperthermia

A

Autosomal Dominant

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15
Q

Marfan’s

A

Autosomal Dominant

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16
Q

Myotonic dystrophy

A

Autosomal Dominant

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17
Q

Neurofibromatosis

A

Autosomal Dominant

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18
Q

Noonan Syndrome

A

Autosomal Dominant

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19
Q

Ostoegenesis Imperfecta

A

Autosomal Dominant

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20
Q

Peutz-Jeghers Syndrome

A

Autosomal Dominant

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21
Q

Retinoblastoma

A

Autosomal Dominant

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22
Q

Romano-Ward Syndrome

A

Autosomal Dominant

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23
Q

Tuberous sclerosis

A

Autosomal Dominant

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24
Q

Von Hippel-Lindau

A

Autosomal Dominant

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25
Q

Von Willebrand’s disease

A

Autosomal Dominant

26
Q

Autosomal Recessive

A

“Metabolic”

27
Q

Albinism

A

Autosomal Recessive

28
Q

Ataxic telangiectasia

A

Autosomal Recessive

29
Q

CAH

A

Autosomal Recessive

30
Q

CF

A

Autosomal Recessive

31
Q

Cystinuria

A

Autosomal Recessive

32
Q

Familial Mediterranean fever

A

Autosomal Recessive

33
Q

Fanconi’s anaemia

A

Autosomal Recessive

34
Q

Friedreich’s ataxia

A

Autosomal Recessive

35
Q

Gilbert’s syndrome

A

Autosomal Recessive

36
Q

Glycogen storage disease

A

Autosomal Recessive

37
Q

Haemochromatosis

A

Autosomal Recessive

38
Q

Homocystinuria

A

Autosomal Recessive

39
Q

Lipid storage disease

A

Autosomal Recessive

40
Q

Hurler’s

A

Autosomal Recessive

41
Q

PKU

A

Autosomal Recessive

42
Q

Sickle cell

A

Autosomal Recessive

43
Q

Thalassaemia

A

Autosomal Recessive

44
Q

Wilson’s

A

Autosomal Recessive

45
Q

Alport’s Syndrome

A

X linked dominant

46
Q

Rett Syndrome

A

X linked dominant

47
Q

Vitamin D resistant rickets

A

X linked dominant

48
Q

Androgen insensitivity syndrome

A

X linked recessive

49
Q

Becker’s dystrophy

A

X linked recessive

50
Q

Colour blindness

A

X linked recessive

51
Q

Duchenne’s

A

X linked recessive

52
Q

Fabry’s disease

A

X linked recessive

53
Q

G6PD deficiency

A

X linked recessive

54
Q

Haemiphilia A and B

A

X linked recessive

55
Q

Hunter’s disease

A

X linked recessive

56
Q

Lesch-Nyhan

A

X linked recessive

57
Q

Nephrogenic DI

A

X linked recessive

58
Q

Ocular Albinism

A

X linked recessive

59
Q

Retinitis Pigmentosa

A

X linked recessive

60
Q

Wiskott-Aldrich

A

X linked recessive

MRCP 1 (16 decks)

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