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

2014-03-07 USMLE genetics - USMLE genetics Flashcards

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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
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

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