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USMLE Step 1 Random Facts > Modes of Inheritance > Flashcards

Modes of Inheritance Flashcards

1
Q

Prader-Willi synd

A

Paternal allele not expressed

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2
Q

Angelman’s synd

A

Maternal allele not expressed

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3
Q

hypophosphatemic rickets

A

X-linked dominant

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4
Q

MERRF

A

mitochondrial inheritance

myoclonic seizures + myopathy ass w/ exercise

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5
Q

Leber optic neuritis

A

mitochondrial inheritance

bilateral vision loss

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6
Q

MELAS

A

mitochondrial inheritance

mitochondrial encephalopathy w/ lactic acidosis and stroke-like episodes

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7
Q

achondroplasia

A

AD

mut in FGFR-3

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8
Q

ADPKD

A

AD

mut in PKD1 (chrom 16)

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9
Q

familial adenomatous polyposis

A

AD

chrom 5 (mut APC gene)

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10
Q

familial hypercholesterolemia (hyperlipidemia type IIA)

A

AD

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11
Q

hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu synd)

A

AD

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12
Q

hereditary spherocytosis

A

AD

defect in spectrin or ankyrin

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13
Q

Huntington’s dz

A

AD

chrom 4 (CAG repeat)

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14
Q

Marfan’s synd

A

AD

fibrillin-1 mut

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15
Q

multiple endocrine neoplasias (MEN)

A

AD

MEN 2A/2B - ass w/ Ret gene

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16
Q

NF-1 (von Recklinghausen’s dz)

A

AD

long arm of chrom 17

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17
Q

NF-2

A

AD

chrom 22

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18
Q

tuberous sclerosis

A

AD

mutated hamartin (or tuberin) gene

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19
Q

VHL dz

A

AD

del of VHL gene on chrom 3p (const activ of HIF + angiogenic factors)

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20
Q

cystic fibrosis

A

AR

CFTR gene on chrom 7 (del of Phe 508)

21
Q

albinism

22
Q

ARPKD

23
Q

glycogen storage diseases

24
Q

hemochromatosis

25
Q

mucopolysaccharidoses (except Hunter’s)

26
Q

PKU

27
Q

sickle cell anemia

28
Q

sphingolipidoses (except Fabry’s)

29
Q

thalassemias

30
Q

Bruton’s agammaglobulinemia

A

X-linked recessive

31
Q

Wiskott-Aldrich synd

A

X-linked recessive

32
Q

Fabry’s dz

A

X-linked recessive

33
Q

G6PD deficiency

A

X-linked recessive

34
Q

ocular albinism

A

X-linked recessive

35
Q

Lesch-Nyhan synd

A

X-linked recessive

36
Q

Duchenne’s (and Becker’s) muscular dystrophy

A

X-linked recessive

37
Q

Hunter’s synd

A

X-linked recessive

38
Q

Hemophilia A + B

A

X-linked recessive

39
Q

Ornithine transcarbamoylase deficiency

A

X-linked recessive

40
Q

cri-du-chat

A

congenital microdeletion of short arm of chrom 5

41
Q

Fragile X synd

A

X-linked dominant

methylation/expression of FMR1 gene

42
Q

Alport synd

A

X-linked recessive

43
Q

Charcot-Marie-Tooth dz

A

X-linked recessive

44
Q

adrenoleukodystrophy

A

X-linked recessive

45
Q

Androgen insensitivity synd

A

X-linked recessive

46
Q

Williams synd

A

congenital microdel of long arm of chrom 7 (del region includes elastin gene)

47
Q

Gardner’s synd

A

AD

mut in APC gene

48
Q

HNPCC/Lynch synd

A

AD
mutation of DNA mismatch repair genes
proximal colon ALWAYS involved

49
Q

Rett’s disorder

A

X-linked dom

mut of MECP-2 gene on X-chrom

USMLE Step 1 Random Facts (35 decks)

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