2014-03-07 USMLE genetics - USMLE genetics Flashcards Preview

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

Flashcards in 2014-03-07 USMLE genetics - USMLE genetics Deck (84):
1

Likely inheritance pattern if 50% of children are affected

autosomal dominant

2

Inheritance of von Willebrand disease

autosomal dominant

3

Inheritance of neurofibromatosis

autosomal dominant

4

Inheritance of multiple endocrine neoplasias

autosomal dominant

5

Inheritance of achondroplasia

autosomal dominant

6

Inheritance of Marfan sydrome

autosomal dominant

7

Inheritance of Huntington disease

autosomal dominant

8

Inheritance of familial hypercholesterolemia

autosomal dominant

9

Inheritance of familial polyposis coli

autosomal dominant

10

Inheritance of adult polycystic kidney disease

autosomal dominant

11

Inheritance of hereditary spherocytosis

autosomal dominant

12

Inheritance of tuberous sclerosis

autosomal dominant

13

Inheritance of myotonic dystrophy

autosomal dominant

14

3 classic findings in neurofibromatosis

- cafe'-au'alit spots, peripheral nerve tumors, acoustic schwannoma

15

5 classic findings in marfan syndrome

- tall
- arachnodactyly
- mitral valve prolapse
- aortic dissection
- lens disslocation

16

Findings to look for with familial hypercholesterolemia

- high cholesterol (Really high)
- xantomas
- early coronary disease

17

Treatment for hereditary spherocytosis

splenectomy

18

Classic triad of zits, fits and nitwits

tuberous sclerosis

19

7 classic findings in tuberous sclerosis

- facial angiofibromas (adenoma sebacium)
- seizures
- mental retardation
- CNS hamartomas
- cardia rhabdomycomas
- renal angiomyolipomas
- Hypopigmented skin macules

20

4 classic findings in myotonic dystrophy

- weakness with inability to RELEASE grip
- balding
- cataracts
- mentl retardation

21

Likely inheritance pattern if 25% of children affected

autosomal recessive

22

Inheritance of sphingolidoses

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

23

Inheritance of mucopolysaccharidoses

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

24

Inheritance of Glycogen storage disease

autosomal recessive

25

Inheritance of cystic fibrosis

autosomal recessive

26

Inheritance of galactosemia

autosomal recessive

27

Inheritance of amion acid disorders

autosomal recessive

28

Inheritance of sicle cell disease

autosomal recessive

29

Inheritance of childhood/infantile polycystic kidney disease

autosomal recessive

30

Inheritance of wilson's disease

autosomal recessive

31

inheritance of Hemochromatois

autosomal recessive (usually)

32

Inheritance of adrenogenital syndrome

autosomal recessive

33

Child with congenital cataracts and neonatal sepsis should be screened for

galactosemia

34

Sugars to avoid in galactosemia

galactose and lactose

35

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

X-linked

36

Inheritance of hemophilia

X-linked

37

Inheritance of G6PD defeciency

X-linked

38

Inheritance of Fabry disease

X-linked

39

Inheritance of Hunter disease

X-linked

40

Inheritance of Lesch-Nyhan syndrome

X-linked

41

Inheritance of Duchenne muscular dystrophy

X-linked

42

Inheritance of Wiscott-Aldrich syndrome

X-linked

43

Inheritance of Bruton agammaglobulinemia

X-linked

44

Inheritance of fragile-X syndrome

X-linked

45

What is Lesch-Nyhan syndrome?

hypoxanthine-guanine phosphoribosyltransferase (HPRT enzyme) deficiency.

46

Mental retardation and self-mutilation, think ________

Lesch-Nyhan syndrome

47

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

- Down syndrome
- Fragile X

48

Male patient with large testes and mental retardation likely has

Fragile X

49

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

polygenic

50

Inheritance of pyloric stenosis

polygenic

51

Inheritance of cleft lip/palate

polygenic

52

Inheritance of type II diabetes

polygenic

53

Inheritance of obesity

polygenic

54

Inheritance of neural tube defects

polygenic

55

Inheritance of schizophrenia

polygenic

56

Inheritance of bipolar disorder

polygenic

57

Inheritance of ischemic heart disease

polygenic

58

Inheritance of alcoholism

polygenic

59

Inheritance of alcoholism is strongest in what family pattern?

From father to son

60

Chormosomal abnormality of Down syndrome

trisomy 21

61

Major risk factor od Down syndrom

increasing age of mother

62

Rate of Down syndrome by mother's age

- 1/1500 of 16 year old mothers
- 1/25 of 45 year old mothers

63

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

trisomy 21

64

4 of the major medical risks with Down Syndrome

- ventricular septal defects
- leukemia
- duodenal atresia
- early Alzheimers disease

65

Which trisomy is more common in females?

18; Edward syndrome

66

Edward syndrome is

trisomy 18

67

Trisomy 18 =

Edward syndrome

68

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

Edward syndrome

69

Major features of Edward syndrome

- mental retardation
- small size for age
- small head
- hypoplastic mandible
- low set ears
- clenched fist with overlapping index finger

70

Patau syndrome =

trisomy 13

71

Trisomy 13 =

Patau syndrome

72

Holoprosencephaly and cleft lip/palate likely =

Patau syndrome

73

Major features of Patau syndrome

- holoprosencephay
- cleft lip/palate
- mental retardation
- apnea
- deafness
- myelomeningocele
- cardiovascular abnormalities
- rocker bottom feet

74

XO =

Turner syndrome

75

Turner syndrom =

XO instead of XX

76

Major features of Turner syndrome

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

77

Girl with coarctation of the aorta and cystic hygroma

Turners syndrome

78

Deletion of short arm of chromosome 5 =

Cri-du-chat

79

Cri-du-chat =

Deletion of short arm of chromosome 5

80

High pitched cry with mental retardation is what chomosomal problem?

Deletion of short arm of chromosome 5

81

XXY =

Klinefelter syndrome

82

Klinefelter syndrome =

XXY

83

Most common presentation of Klinefelter syndrome

infertility

84

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

Klinefelter syndrome