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Medical Genetics > multifactorial inheritance > Flashcards

multifactorial inheritance Flashcards

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Biology 101 flashcards USMLE® Step 1 flashcards
1
Q

MCC Of major anomalies in infants is due to what

A

multifactorial inheritance

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2
Q

what is the threshold of a disease

A

amt of factors/symptoms you need of a disease before you are affected

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3
Q

what causes cleft lip and palate

A

genetics and environment

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4
Q

what is the 4th MC congenital disorder

A

cleft lip and palate

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5
Q

how do we treat cleft lip and palate

A

we use a team approach of a bunch of different specialists

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6
Q

what is cleft lip/palate

A

when frontonasal processes of face and lateral maxillary prominences do not unite at 3-4 weeks of development

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7
Q

what are midline facial clefts from

A

deficient frontonasal development usually induced by the brain

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8
Q

what are midline facial clefts usually associated with

A

holoprosencephaly (no 2 hemispheres in brain)

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9
Q

what is the most common cleftlip/palate disorder

A

unilateral cleft lip (80%)

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10
Q

what is classic cleft palate

A

V shaped palate

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11
Q

what is submucosal cleft palate

A

hard palate shelves do not merge together, but soft tissue forms

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12
Q

what else is common in someone with submucosal cleft palate

A

bifid or double uvula

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13
Q

where is a U shaped cleft palate common in

A

Pierre robin malformation sequence

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14
Q

what is a U shaped cleft is due to

A

obstruction by the tongue

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15
Q

what are the MC chromosome anomalies associated with CL/CP

A

trisomy 13 and 18

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16
Q

inheritance pattern of van der woude synd

A

autosomal dominant

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17
Q

is van der woude synd congenital

A

yes

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18
Q

mutations in IRF6 are in what synd

A

van der woude synd

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19
Q

what occurs in van der woude synd

A

they either have cleft lip OR cleft palate

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20
Q

inheritance pattern for stickler syndrome

A

autosomal dominant

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21
Q

what type of disorder is stickler syndrome

A

CT disorder

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22
Q

clinical manifestations of stickler syndrome

A

myopia, cataracts, retinal detachment, hearing loss, skeletal probs and arthririts, underdeveloped midface, cleft palate

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23
Q

myopia?

A

nearsightedness

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24
Q

micrognathia? what can it cause?

A

small jaw that can cause airway obstruction bc the tongue is too big

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25
Q

mutations in COL2A1 are in what

A

COL2A1

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26
Q

what type of cleft palate do ppl with 22q11.2 deletion syndrome have

A

submucosal or classic CP

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27
Q

deletions in 22q11.2 deletion syndrome are detected by what

A

chromosome analysis, FISH, or microarray

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28
Q

inheritance pattern for 22q11.2 deletion syndrome

A

autosomal dominant

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29
Q

recurrence risk for someone with 22q, van der woude, and sticker are what

A

50% bc it’s autosomal dominant

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30
Q

are most cleft lip/palate syndromic or nonsyndromic

A

nonsyndromic 70%

syndromic 30%

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31
Q

what does the cause of nonsyndromic cleft L/P depend on

A

number of family members affected and the type and severity of the cleft

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32
Q

environmental causes of cleft lip and/or cleft palate

A

amniotic band sequence, alcohol, anticonvolusants, methotrexate, maternal tobacco

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33
Q

what are anticonvolusants

A

antiseizure drugs

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34
Q

what is methotrexate

A

drug used to treat cancer

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35
Q

cleft lip and/or cleft palate is more common in males or females

A

males

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36
Q

cleft palate alone is more common in maes or females

A

females

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37
Q

why do sex diff. occur in cleft L/P

A

unknown; maybe testosterone or gene dosages on the sex chromosomes

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38
Q

is pyloric stenosis more common in boys or girls

A

boys by a 5:1 ratio bc the genetic threshold is lower

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39
Q

if there is a gender difference in a multifactorial syndrome, who is the recurrence risk greatest for?

A

if the less affected sex (one with lowest threshold) has a child the opposite gender

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40
Q

who is the recurrence risk highest for in someone with pyloric stenosis

A

affected female has a son

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41
Q

who is the recurrence risk lowest for in someone with pyloric stenosis

A

affected father has a daughter

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42
Q

when is the neural tube formed

A

24-28 days

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43
Q

____% of pregnancies are unplanned; ____% for teens

A

50,80

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44
Q

how do we treat neural tube defects

A

surgery within 24 hrs of birth

45
Q

what are the 3 neural tube defects? which is most common?

A

spina bifida (MC), anencephaly, and encephalocele

46
Q

spina bifida?

A

when backbone and spinal canal dont form properly during fetal development

47
Q

meningomyocele?

A

protrusion of meninges and spinal cord through the backbone

48
Q

meningocele?

A

protrusion of meninges through the backbone

49
Q

types of spina bifida?

A

oculta/closed, meninogmyocele, or meningocele

50
Q

what is the degree of impairment related to in spina bifida oculta

A

location of the defect; higher the opening, the greater the impairment

51
Q

what kinds of disabilities do ppl with spina bifida have?

A

paralysis of lower extremities, bowel or bladder function control, hydrocephalus

52
Q

intelligence of ppl with spina bifida?

A

usually normal (70%), but some have ID

53
Q

anal wink?

A

test done to see if someone with spina bifida has bowel/bladder function

54
Q

hydrocephalus?

A

excessive fluid on brain

55
Q

encephalocele?

A

part of skull is not formed correctly so part of brain is on outside of skull

56
Q

what does the effect of encephalocele depend on?

A

size… 30% mortality rate

57
Q

anencephaly?

A

brain and skull are not properly formed so most die. if they survive they usually die shortly after birth

58
Q

besides surgery within 24 hours of birth for spina bifida, how can we treat it?

A

in utero, but long term effects are unknown

59
Q

who do NTD usually occur in

A

95% in families with no prior hx of NTD

60
Q

cause of NTD?

A

multifactorial: genetics and environment

61
Q

NTD risk factors?

A

seizure meds, insulin dependent diabetes, maternal obesity, prolonged inc. maternal temp, celiac or malabsorption syndromes, gastric bypass

62
Q

pyloric stenosis?

A

overgrowth of tissue in the pyloric region of the stomach so babies spit up food

63
Q

NTD are most common in ppl with what ethnic background

A

hispanic women of mexican origin

64
Q

antiepileptic drugs during pregnancy may increase risk for what?

A

congenital heart diseases, clefting, NTD

65
Q

how should fevers be treated during pregnancy

A

tylenol

66
Q

hyperthermia during pregnancy increases risk for what

A

NTD, ASD, and hypoplastic left heart

67
Q

methylenetetrafolate reductidase is an enzyme used for what

A

folate metabolism

68
Q

which allele do 10-20% of the US population have 2 copies of: C677T or A1298C?

A

C677T

69
Q

is having 2 mutations in MTHFR harmful?

A

no, 10-20% of the population has 2 mutations. you are only at risk for NTD if you have inc homocystine and AND 2 mutations

70
Q

2 mutations in MTHFR and inc homocysteine have an increased risk for what

A

NTD

71
Q

how do we make homocysteine levels go back to normal?

A

ingest enough folate

72
Q

why is folic acid important?

A

daily folic acid of 400ug reduces homocysteine levels up to 70%

73
Q

what can reduced homocysteine levels prevent

A

NTD, cleft lip and palate defects, heart defects, limb reduction defects, UT defects, cancer, strokes

74
Q

when do we need to start having folic acid in our diet in relation to pregnancy

A

one month before conception through the first few weeks of pregnancy, which is HARD bc 50% of pregnancies are unplanned

75
Q

what does the US public health service recommend to women capeable of becoming pregnant

A

consume 400 micrograms or .4 mg of folic acid daily throughout childbearing years to reduce risk of having a pregnancy affected by NTD

76
Q

what foods are rich in folate

A

liver, dark leafy greens, citrus fruits, nuts, seeds, legumes, dried peas/beans, lentils, enriched whole grains/cereals

77
Q

if there is a family hx of NTD, how much folic acid should mothers intake

A

4000 micrograms or 4mg which is 10 times the normal recommended

78
Q

locus heterogenity?

A

many different genes can cause the same phenotype

79
Q

ex of locus heterogeneity?

A

osteogenesis imperfecta and noonan

80
Q

multifactorial?

A

multiple additive factors are needed to reach disease threshold

81
Q

monozygotic twins are great for studying what

A

environmental effect on disease bc their genes are identical

82
Q

what is concordance?

A

when twins have a similar trait

83
Q

discordance?

A

twins do not have a similar trait

84
Q

a high concordance rate means what

A

when one twin has a trait, the other will likely have it too

85
Q

what are some common concorgance traits?

A

height, BMI, autism, fingerprints, measles

86
Q

monozygotic twins share ___% of genetic material while dizygotic twins share___%

A

100,50

87
Q

what does a heritability of 1 suggest?

A

trait is highly genetic

88
Q

how do we calculate heritability

A

2* (MZ concordance-DZ concordance)

89
Q

what can account for differences in MZ twins

A

different uterine environments, postnatal environments, somatic mutations, methylations patterns

90
Q

why is schizophrenia hard to study

A

so many different symptoms and phenotypes

91
Q

schizophrenia is linked to receptors with what NT receptor interactions

A

glutamate

92
Q

MCC of cardiovascular disease

A

CAD

93
Q

leading cause of death worldwide

A

cardiovascular disease

94
Q

family hx of this disease increases ones risk for getting the disease by 2

A

cardiovascular disease

95
Q

what type of disease is cardiovascular disease

A

multifactorial

96
Q

what is dilated cardiomyopathy

A

increase in ventricular size and impaired contraction

97
Q

how is dilated cardiomyopathy inherited

A

mostly autosomal dominant but there are XLR and mitochondrial forms

98
Q

what is hypertrophic cardiomyopathy

A

thickened heart muscle

99
Q

how is hypertrophic cardiomyopathy inherited

A

autosomal dominant

100
Q

what is long QT syndrome

A

delated repolarization

101
Q

what are ppl with long QT syndrome at risk for

A

fatal arrhythmia

102
Q

how is long QT syndrome inherited

A

AD mutations

103
Q

how is long QT syndrome treated

A

potassium channel blocking meds

104
Q

this is the leading cause of adult blindness, kidney failure, and lower limb amputation

A

diabetes

105
Q

diabetes is a major risk factor for what

A

heart disease and stroke

106
Q

what is maturity onset diabetes of the young (MODY)

A

autosomal dominant condition that is a single gene disorder

107
Q

T or F: all cancer is genetic, but not all cancer is inherited

A

T

108
Q

what variables can pt control when looking at risk for multifactorial diseases

A

diet, screening, lifestyle

Medical Genetics (15 decks)

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