Autosomal inheritance Flashcards

1
Q

What is a general rule for remembering autosomal recessive vs autosomal dominant?

A

Autosomal recessive often thought to be “metabolic”
Autosomal dominant are “structural”

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2
Q

Achondroplasia?

A

Autosomal dominant

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3
Q

Acute intermittent porphyria

A

Autosomal dominant

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4
Q

Albinism

A

Autosomal recessive

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5
Q

Ataxic telangiectasia

A

Autosomal recessive

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6
Q

Congenital adrenal hypoplasia

A

Autosomal recessive

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7
Q

Adult polycystic disease

A

Autosomal dominant

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8
Q

Antithrombin III deficiency

A

Autosomal dominant

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9
Q

Ehlers Danlos

A

Autosomal dominant

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10
Q

Familial adenomatous polyposis

A

Autosomal dominant

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11
Q

Cystic fibrosis

A

Autosomal recessive

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12
Q

Cystinuria

A

Autosomal recessive

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13
Q

Familial Mediterranean fever

A

Autosomal recessive

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14
Q

Fanconi anaemia

A

Autosomal recessive

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15
Q

Hereditary haemorrhangic telangiectasia

A

Autosomal dominant

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16
Q

Hereditary spherocytosis

A

Autosomal dominant

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17
Q

Freidreich’s ataxia

A

Autosomal recessive

18
Q

Hereditary non-polyposis colorectal carcinoma

A

Autosomal dominant

19
Q

Huntington’s

A

Autosomal dominant

20
Q

Hyperlipidaemia type II

A

Autosomal dominant

21
Q

Glycogen storage disease

A

Autosomal recessive

22
Q

Haemochromotosis

A

Autosomal recessive

23
Q

Malignant hyperthermia

A

Autosomal dominant

24
Q

Marfan’s

A

Autosomal dominant

25
Myotonic dystrophy
Autosomal dominant
26
Homocystinuria
Autosomal recessive
27
Lipid-storage disease
Autosomal recessive
28
Neurofibromatosis
Autosomal dominant
29
Noonan
Autosomal dominant
30
Osteogenesis imperfecta
Autosomal dominant
31
Peutz-Jeghers syndrome
Autosomal dominant
32
Mycopolysaccharoidoses
Autosomal recessive
33
PKU
Autosomal recessive
34
Sickle cell anaemia
Autosomal recessive
35
Retinoblastoma
Autosomal dominant
36
Romano-Ward syndrome
Autosomal dominant
37
Tuberous sclerosis
Autosomal dominant
38
Thalassaemias
Autosomal recessive
39
Wilson's disease
Autosomal recessive
40
Von Hippel-Lindau syndrome
Autosomal dominant
41
von Willebrand's 1 and 2
Autosomal dominant
42
von Willebrand's 3
Autosomal recessive