Autosomal Dominant and Recessive Diseases Flashcards

1
Q

Cystic Fibrosis

A

Autosomal Recessive

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2
Q

PKU

A

Autosomal Recessive

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3
Q

Postaxial polydactyly

A

Autosomal Dominant

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4
Q

Marfan’s

A

Autosomal Dominant (pleiotropic)

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5
Q

Huntington’s

A

Autosomal Dominant (Late Onset)

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6
Q

Neurofibromatosis type I

A

Autosomal Dominant (variable expression mild to severe)

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7
Q

Retinoblastoma

A

Autosomal Dominant (reduced pentrance)

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8
Q

Factor V Leiden

A

Autosomal Dominant (Severe as homozygote)

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9
Q

BRCA1 and BRCA2 mutations

A

Autosomal Dominant (but appear only in females)

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10
Q

Tyrosinase-negative albinism

A

Autosomal Recessive; metabolic block in the synthesis of melanin

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11
Q

CFTR

A

Autosomal Recessive

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12
Q

Hereditary hemochromatosis

A

Autosomal Recessive

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13
Q

Tay Sach’s

A

Autosomal Recessive

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14
Q

Sickle Cell

A

Autosomal Recessive

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15
Q

Wilson disease

A

Autosomal Recessive (very rare, consanguinity, Copper is retained in the liver and brain)

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16
Q

Gaucher disease

A

Autosomal Recessive

17
Q

Horizontal transmission

A

Autosomal Recessive

18
Q

Vertical transmission

A

Autosomal Dominant

19
Q

Skipped generations

A

Autosomal Recessive

20
Q

No skipped generations

A

Autosomal Dominant

21
Q

Unaffected individual will not have affected offspring

A

Autosomal Dominant

22
Q

Unaffected individual may have affected offspring

A

Autosomal Recessive

23
Q

Seen in multiple siblings but not in earlier generations

A

Autosomal Recessive

24
Q

Hurler Syndrome

A

Autosomal Recessive

25
Q

Consanguinity

A

Mating of closely related individuals (common in many cultures)

26
Q

Achondroplasia

A

Autosomal Dominant (Severe as homozygote)

27
Q

Osteogenesis Imperfecta

A

Autosomal dominant - Example of heterogeneity and type II is an example of germline mosaicism

28
Q

Examples of Germline Mosaicism

A

Osteogenesis Imperfecta type II, achondroplasia, neurofibromatosis type I, Duchenne muscular dystrophy, Hemophilia A

29
Q

Angelman Syndrome

A

Genomic imprinting + deletion on maternal chromosome 15, MR, seizures, ataxic gait

30
Q

Prader-Wili

A

Genomic imprinting + deletion on paternal chromosome 15, short stature, small hands, obesity, mild to moderate MR, hypogonadism