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step3 > 2014-03-07 USMLE genetics - USMLE genetics > Flashcards

2014-03-07 USMLE genetics - USMLE genetics Flashcards

1
Q

Likely inheritance pattern if 50% of children are affected

A

autosomal dominant

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2
Q

Inheritance of von Willebrand disease

A

autosomal dominant

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3
Q

Inheritance of neurofibromatosis

A

autosomal dominant

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4
Q

Inheritance of multiple endocrine neoplasias

A

autosomal dominant

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5
Q

Inheritance of achondroplasia

A

autosomal dominant

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6
Q

Inheritance of Marfan sydrome

A

autosomal dominant

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7
Q

Inheritance of Huntington disease

A

autosomal dominant

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8
Q

Inheritance of familial hypercholesterolemia

A

autosomal dominant

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9
Q

Inheritance of familial polyposis coli

A

autosomal dominant

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10
Q

Inheritance of adult polycystic kidney disease

A

autosomal dominant

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11
Q

Inheritance of hereditary spherocytosis

A

autosomal dominant

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12
Q

Inheritance of tuberous sclerosis

A

autosomal dominant

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13
Q

Inheritance of myotonic dystrophy

A

autosomal dominant

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14
Q

3 classic findings in neurofibromatosis

A
  • cafe’-au’alit spots, peripheral nerve tumors, acoustic schwannoma
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15
Q

5 classic findings in marfan syndrome

A
  • tall
  • arachnodactyly
  • mitral valve prolapse
  • aortic dissection
  • lens disslocation
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16
Q

Findings to look for with familial hypercholesterolemia

A
  • high cholesterol (Really high)
  • xantomas
  • early coronary disease
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17
Q

Treatment for hereditary spherocytosis

A

splenectomy

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18
Q

Classic triad of zits, fits and nitwits

A

tuberous sclerosis

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19
Q

7 classic findings in tuberous sclerosis

A
  • facial angiofibromas (adenoma sebacium)
  • seizures
  • mental retardation
  • CNS hamartomas
  • cardia rhabdomycomas
  • renal angiomyolipomas
  • Hypopigmented skin macules
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20
Q

4 classic findings in myotonic dystrophy

A
  • weakness with inability to RELEASE grip
  • balding
  • cataracts
  • mentl retardation
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21
Q

Likely inheritance pattern if 25% of children affected

A

autosomal recessive

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22
Q

Inheritance of sphingolidoses

A

autosomal recessive (except for Fabry’s which is x-linked)

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23
Q

Inheritance of mucopolysaccharidoses

A

autosomal recessive (except for Hunter’s which is x-linked)

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24
Q

Inheritance of Glycogen storage disease

A

autosomal recessive

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25
Q

Inheritance of cystic fibrosis

A

autosomal recessive

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26
Q

Inheritance of galactosemia

A

autosomal recessive

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27
Q

Inheritance of amion acid disorders

A

autosomal recessive

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28
Q

Inheritance of sicle cell disease

A

autosomal recessive

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29
Q

Inheritance of childhood/infantile polycystic kidney disease

A

autosomal recessive

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30
Q

Inheritance of wilson’s disease

A

autosomal recessive

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31
Q

inheritance of Hemochromatois

A

autosomal recessive (usually)

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32
Q

Inheritance of adrenogenital syndrome

A

autosomal recessive

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33
Q

Child with congenital cataracts and neonatal sepsis should be screened for

A

galactosemia

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34
Q

Sugars to avoid in galactosemia

A

galactose and lactose

35
Q

If an affected father has a carrier daughter, the inheritance is likely

A

X-linked

36
Q

Inheritance of hemophilia

A

X-linked

37
Q

Inheritance of G6PD defeciency

A

X-linked

38
Q

Inheritance of Fabry disease

A

X-linked

39
Q

Inheritance of Hunter disease

A

X-linked

40
Q

Inheritance of Lesch-Nyhan syndrome

A

X-linked

41
Q

Inheritance of Duchenne muscular dystrophy

A

X-linked

42
Q

Inheritance of Wiscott-Aldrich syndrome

A

X-linked

43
Q

Inheritance of Bruton agammaglobulinemia

A

X-linked

44
Q

Inheritance of fragile-X syndrome

A

X-linked

45
Q

What is Lesch-Nyhan syndrome?

A

hypoxanthine-guanine phosphoribosyltransferase (HPRT enzyme) deficiency.

46
Q

Mental retardation and self-mutilation, think ________

A

Lesch-Nyhan syndrome

47
Q

1st and 2nd most common causes of mental retardation in males?

A
  • Down syndrome

- Fragile X

48
Q

Male patient with large testes and mental retardation likely has

A

Fragile X

49
Q

If multiple relatives have a disease but no specific inheritance pattern has been found, it is likely

A

polygenic

50
Q

Inheritance of pyloric stenosis

A

polygenic

51
Q

Inheritance of cleft lip/palate

A

polygenic

52
Q

Inheritance of type II diabetes

A

polygenic

53
Q

Inheritance of obesity

A

polygenic

54
Q

Inheritance of neural tube defects

A

polygenic

55
Q

Inheritance of schizophrenia

A

polygenic

56
Q

Inheritance of bipolar disorder

A

polygenic

57
Q

Inheritance of ischemic heart disease

A

polygenic

58
Q

Inheritance of alcoholism

A

polygenic

59
Q

Inheritance of alcoholism is strongest in what family pattern?

A

From father to son

60
Q

Chormosomal abnormality of Down syndrome

A

trisomy 21

61
Q

Major risk factor od Down syndrom

A

increasing age of mother

62
Q

Rate of Down syndrome by mother’s age

A
  • 1/1500 of 16 year old mothers

- 1/25 of 45 year old mothers

63
Q

Baby with hypotonia and transverse palmar crease at birth should be considered for

A

trisomy 21

64
Q

4 of the major medical risks with Down Syndrome

A
  • ventricular septal defects
  • leukemia
  • duodenal atresia
  • early Alzheimers disease
65
Q

Which trisomy is more common in females?

A

18; Edward syndrome

66
Q

Edward syndrome is

A

trisomy 18

67
Q

Trisomy 18 =

A

Edward syndrome

68
Q

A baby with clench fist with index finger overlapping 3rd and 4th fingers =

A

Edward syndrome

69
Q

Major features of Edward syndrome

A
  • mental retardation
  • small size for age
  • small head
  • hypoplastic mandible
  • low set ears
  • clenched fist with overlapping index finger
70
Q

Patau syndrome =

A

trisomy 13

71
Q

Trisomy 13 =

A

Patau syndrome

72
Q

Holoprosencephaly and cleft lip/palate likely =

A

Patau syndrome

73
Q

Major features of Patau syndrome

A
  • holoprosencephay
  • cleft lip/palate
  • mental retardation
  • apnea
  • deafness
  • myelomeningocele
  • cardiovascular abnormalities
  • rocker bottom feet
74
Q

XO =

A

Turner syndrome

75
Q

Turner syndrom =

A

XO instead of XX

76
Q

Major features of Turner syndrome

A
  • nuchal lympedema at birth
  • short
  • webbed neck
  • widely spaced nipples
  • primary ovarian failure
  • Coarctation of the aorta
  • Horseshoe kidney
  • cystic hygroma
77
Q

Girl with coarctation of the aorta and cystic hygroma

A

Turners syndrome

78
Q

Deletion of short arm of chromosome 5 =

A

Cri-du-chat

79
Q

Cri-du-chat =

A

Deletion of short arm of chromosome 5

80
Q

High pitched cry with mental retardation is what chomosomal problem?

A

Deletion of short arm of chromosome 5

81
Q

XXY =

A

Klinefelter syndrome

82
Q

Klinefelter syndrome =

A

XXY

83
Q

Most common presentation of Klinefelter syndrome

A

infertility

84
Q

Tall thin man with microtestes, sterility and mildly decreased IQ =

A

Klinefelter syndrome

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