Inheritance Flashcards

1
Q

Androgen insensitivity

A

X-linked recessive

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2
Q

Becker muscular dystrophy

A

X-linked recessive

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3
Q

Duchenne muscular dystrophy

A

X-linked recessive

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4
Q

Fabry

A

X-linked recessive

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5
Q

G6PD deficiency

A

X-linked recessive

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6
Q

Haemophilia A

A

X-linked recessive

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7
Q

Haemophilia B

A

X-linked recessive

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8
Q

Nephrogenic diabetes insipidus

A

X-linked recessive

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9
Q

Lesch-Nyhan

A

X-linked recessive

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10
Q

Alport

A

X-linked dominant

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11
Q

Rett syndrome

A

X-linked dominant

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12
Q

Sickle cell anaemia

A

Autosomal recessive

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13
Q

Congenital adrenal hyperplasia

A

Autosomal recessive

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14
Q

Friedreich’s ataxia

A

Autosomal recessive

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15
Q

Haemochromotosis

A

Autosomal recessive

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16
Q

Wilson’s

A

Autosomal recessive

17
Q

Homocystinuria

A

Autosomal recessive

18
Q

Tay-sachs

A

Autosomal recessive

19
Q

Familial adenomatous polyposis

A

Autosomal dominant

20
Q

Hereditary haemorrhagic telangiectasia

A

Autosomal dominant

21
Q

Hereditary spherocytosis

A

Autosomal dominant

22
Q

Huntington’s

A

Autosomal dominant

23
Q

Marfan’s

A

Autosomal dominant

24
Q

Myotonic dystrophy

A

Autosomal dominant

25
Tuberous sclerosis
Autosomal dominant
26
Osteogenesis imperfecta
Autosomal dominant
27
Peutz-Jeghers
Autosomal dominant
28
Von willebrand
Autosomal dominant
29
Noonan
Autosomal dominant
30
Down's syndrome
T21
31
Edwards's syndrome
T18
32
Patau syndrome
T13
33
Prader-Willi
Imprinting. Deletion paternal chr 15 or maternal disomy chr 15 (no paternal contribution)
34
Angelman
Imprinting. Deletion maternal chr 15 or paternal disomy (no maternal contribution)