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USMLE Step I > Modes of Inheritance > Flashcards

Modes of Inheritance Flashcards

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USMLE® Step 1 flashcards
1
Q

Prader-Willi

A

Maternal imprinting (paternal deletion)

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2
Q

Angelman Syndrome

A

Paternal imprinting (maternal deletion)

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3
Q

ADPKD

A

Autosomal Dominant

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4
Q

ARPKD

A

Autosomal Recessive

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5
Q

Menkes Disease

A

X-linked Recessive (impaired copper absorption- brittle “kinky” hair, growth retardation, and hypotonia)

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6
Q

Lesch-Nyan Syndrome

A

X-Linked Recessive

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7
Q

Familial Adenomatous Polyposis

A

Autosomal Dominant

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8
Q

Familial hypercholesterolemia

A

Autosomal Dominant

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9
Q

Hereditary hemorrhagic telangiectasia

A

Autosomal Dominant

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10
Q

Hereditary Spherocytosis

A

Autosomal Dominant

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11
Q

Huntington Disease

A

Autosomal Dominant, anticipation, CAG repeat

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12
Q

Li-Fraumeni Syndrome

A

Autosomal Dominant

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13
Q

Albinism

A

Autosomal Recessive

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14
Q

Cystic Fibrosis

A

Autosomal Recessive

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15
Q

Glycogen Storage Diseases

A

Autosomal Recessive

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16
Q

Hemochromatosis

A

Autosomal Recessive

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17
Q

Kartagener Syndrome

A

Autosomal Recessive

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18
Q

Mucopolysaccharidoses (except Hunter)

A

Autosomal Recessive

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19
Q

PKU

A

Autosomal Recessive

20
Q

Sickle Cell Anemia

A

Autosomal Recessive

21
Q

Sphingolipidoses (except Fabry)

A

Autosomal Recessive

22
Q

Thalassemias

A

Autosomal Recessive

23
Q

Wilson Disease

A

Autosomal Recessive

24
Q

Marfan Syndrome

A

Autosomal Dominant

25
Q

MEN Syndromes

A

Autosomal Dominant

26
Q

Neurofibromatosis type I (von Recklinghausen Disease)

A

Autosomal Dominant

27
Q

Neurofibromatosis type II

A

Autosomal Dominant

28
Q

Tuberous Sclerosis

A

Autosomal Dominant

29
Q

von Hippel-Lindau Disease

A

Autosomal Dominant

30
Q

Bruton’s agammaglobinemia

A

X-Linked Recessive

31
Q

Wiskott-Aldrich Syndrome

A

X-Linked Recessive

32
Q

Fabry Disease

A

X-Linked Recessive

33
Q

G6PD Deficiency

A

X-Linked Recessive

34
Q

Ocular Albinism

A

X-Linked Recessive

35
Q

Duchenne Muscular Dystrophy

A

X-Linked Recessive

36
Q

Becker Muscular Dystrophy

A

X-Linked Recessive

37
Q

Hunter Syndrome

A

X-Linked Recessive

38
Q

Hemophilia A

A

X-Linked Recessive

39
Q

Hemophilia B (Christmas Disease)

A

X-Linked Recessive

40
Q

OTC Deficiency

A

X-Linked Recessive

41
Q

Myotonic Type I Muscular Dystrophy

A

Autosomal Dominant (CTG repeat)

42
Q

Fragile X Syndrome

A

X-linked Dominant, (CGG repeat)

43
Q

Down Syndrome

A

Trisomy 21- meiotic disjunction (95% of cases)

44
Q

Edwards Syndrome

A

Trisomy 18- meiotic disjunction

45
Q

Patau Syndrome

A

Trisomy 13 meiotic disjunction or Robertsonian translocation

USMLE Step I (25 decks)

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