Inheritance Flashcards

1
Q

• Achondroplasia

A

Autosomal dominant

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2
Q

• Albinism

A

Autosomal recessive

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3
Q

Name 4 X-Linked dominant diseases

A

Fragile X
• Alport’s syndrome (in around 85% of cases - 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing)
• Rett syndrome
• Vitamin D resistant rickets

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4
Q

• Hereditary spherocytosis

A

Autosomal dominant

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5
Q

• Malignant hyperthermia

A

Autosomal dominant

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6
Q

• Becker muscular dystrophy, • Duchenne muscular dystrophy

A

X-linked recessive

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7
Q

• Chronic granulomatous disease (in >70%)

A

X-linked recessive

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8
Q

• Neurofibromatosis

A

Autosomal dominant

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9
Q

• Colour blindness

A

X-linked recessive

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10
Q

• Osteogenesis imperfecta

A

Autosomal dominant

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11
Q

• Alpha-1 antitrypsin deficiency

A

Autosomal recessive (or co-dominant)

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12
Q

• Retinoblastoma

A

Autosomal dominant

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13
Q

• Von Hippel-Lindau syndrome

A

Autosomal dominant

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14
Q

• Lesch-Nyhan syndrome

A

X-linked recessive

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15
Q

• Congenital adrenal hyperplasia

A

Autosomal recessive

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16
Q

• Marfan’s syndromes

A

Autosomal dominant

17
Q

• Nephrogenic diabetes insipidus

A

X-linked recessive

18
Q

• Noonan syndrome

A

Autosomal dominant

19
Q

• Retinitis pigmentosa

A

X-linked recessive

20
Q

• Cystinuria

A

Autosomal recessive

21
Q

• Myotonic dystrophy

A

Autosomal dominant

22
Q

• Peutz-Jeghers syndrome

A

Autosomal dominant

23
Q

• Ehlers-Danlos syndrome

A

Autosomal dominant

24
Q

• Acute intermittent porphyria

A

Autosomal dominant

25
• Familial Mediterranean Fever
Autosomal recessive
26
• Fanconi anaemia
Autosomal recessive
27
• Friedreich's ataxia
Autosomal recessive
28
* G6PD deficiency * Lipid storage disease (Tay-Sach's, Gaucher, Niemann-Pick) * Mucopolysaccharidoses (Hurler's) * PKU
Autosomal recessive
29
• Haemochromatosis
Autosomal recessive
30
• Thalassaemias
Autosomal recessive
31
• Wilson's disease
Autosomal recessive