Inheritance 1 Flashcards

1
Q

Alport’s

A

X-linked dominant

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2
Q

Rett’s

A

X-linked dominant

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3
Q

Vit D resistant rickets

A

X-linked dominant

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4
Q

Achondroplasia

A

Autosomal dominant

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5
Q

AIP

A

Autosomal dominant

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6
Q

Adult polycystic disease

A

Autosomal dominant

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7
Q

Ehlers-Danlos

A

Autosomal dominant

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8
Q

FAP

A

Autosomal dominant

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9
Q

Hereditary haemorrhagic telangectasia

A

Autosomal dominant

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10
Q

Hereditary spherocytosis

A

Autosomal dominant

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11
Q

Hereditary non-polyposis colorectal carcinoma

A

Autosomal dominant

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12
Q

Huntington’s

A

Autosomal dominant

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13
Q

Hyperlipidaemia TII

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

17
Q

Neurofibromatosis

A

Autosomal dominant

18
Q

Noonan

A

Autosomal dominant

19
Q

Osteogenesis imperfecta

A

Peutz-Jeghers

20
Q

Retinoblastoma

A

Autosomal dominant

21
Q

Romano-Ward

A

Autosomal dominant

22
Q

Tuberous sclerosis

A

Autosomal dominant

23
Q

Von Hippel-Lindau

A

Autosomal dominant

24
Q

Von Williebrand

A

Autosomal dominant

25
Q

Prader-Willi

A

Uniparental disomy (deletion)

26
Q

William’s

A

Autosomal dominant

27
Q

Androgen insensitivity

A

X-linked recessive

28
Q

Becker muscular dystrophy

A

X-linked recessive

29
Q

Colour blindess

A

X-linked recessive

30
Q

Fabry’s

A

X-linked recessive

31
Q

G6PD def

A

X-linked recessive

32
Q

Haemophilia A/B

A

X-linked recessive

33
Q

Hunter’s

A

X-linked recessive

34
Q

Lesch-Nyhan

A

X-linked recessive

35
Q

Nephrogenic DI

A

X-linked recessive

36
Q

Ocular albinism

A

X-linked recessive

37
Q

Retitinis pigmentosa

A

X-linked recessive

38
Q

Wiskott-Aldrich

A

X-linked recessive