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BOARDS > Genetics > Flashcards

Genetics Flashcards

1
Q

chorionic villus testing at

A

12 weeks

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2
Q

amniocentesis at

A

16 weeks

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3
Q

x linked recessive disorders usually involve

A

enzyme deficiency

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4
Q

what are the x linked recessive disorders

A

hemophilia A/B, G6PD, CGD, DuXchenne muscular dystrophy, NeXrophenic DI, Retinitis pigmenXosa, Androgen insensitivity, Wiskott Aldrich

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5
Q

what are the chances of having a child with disease if mom is carrier of x-linked recessive disease

A

50% males affected, 50% females carriers (25% of all children carriers, 25% of all children affected)

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6
Q

no male to male transmission if

A

x linked

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7
Q

variable penetrance and variable expressivity in what mode of transmission

A

autosomal dominant

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8
Q

autosomal dominant disease mnemonic

A

TAR MAN

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9
Q

autosomal dominant diseases

A 
Tuberous sclerosis
Achondroplasia
Retinoblastoma
Marfan
Apert and All porphyria
Nail patella syndrome and Neurofibromatosis
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10
Q

what rules out autosomal recessive transmission

A

vertical transmission through 3 generations

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11
Q

what percent of unaffected offspring are carriers with autosomal recessive

A

2/3

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12
Q

autosomal recessive disease

A 
GAS HAT WAK P
Galactosemia
Alpha1 antitrypsin
Sickle cell and Thalassemia
Hurler
Ataxia telangiectasia
Tay Sachs
Wilson
Adrenogential syndrome
Kartagener
PKU
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13
Q

heart defects with Turners

A

bicuspid aortic vale and coarctation of the aorta

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14
Q

infant presentation w/ Turners

A

short 4th and 5th metacarpals, widely spaced nipples, lymphedema of hands and feet

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15
Q

adolescent features of Turners

A

short stature, minimal breast development, primary amenorrhea

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16
Q

added features of Turners

A

wide carrying angle of elbows, chronic otitis media, hyper convex nails, small mandible, high arched palate

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17
Q

most common chromosomal defect in spontaneous abortions

A

45XO (turners)

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18
Q

lab finding in Turner

A

elevated FSH

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19
Q

Noonan syndrome features

A

precuts excavatum, webbed neck, pulmonic stenosis

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20
Q

Noonan syndrome heart defect

A

pulmonic stenosis

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21
Q

mutation in Marfans

A

chromosome 15 in the fibrillar gene

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22
Q

major criteria to diagnose marfans

A
  1. dilatation/dissection of aortic root
  2. lumbosacral dural ectasia
  3. ectopia lensis
  4. four skeletal abnormalities
  5. family/genetic history
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23
Q

homocystinuria lens

A

displaced downwards

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24
Q

genetic disorders that increase w/ increasing maternal age

A

trisomies

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25
Q

2 ways trisomy 21 can arise

A

translocation or nondisjunction

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26
Q

is there increased risk of additional offspring w/ trisomy?

A

100% if parent w/ full translocation, 15% if partial translocation, normal risk if nondisjunction

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27
Q

most common abnormality in down syndrome

A

hypotonia

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28
Q

eye finding in down syndrome

A

brush field spots

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29
Q

heart findings in down syndrome

A

AV canal/endocardial cushion defects (causes EKG axis to be off)

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30
Q

Edward syndrome aka

A

trisomy 18

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31
Q

kidney problem trisomy 18

A

horseshoe kidney

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32
Q

trisomy 18 findings

A

clenched fists w/ hypo plastic nails, rocker bottom feet, prominent occiput and low set ears, horseshoe kidneys

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33
Q

patio syndrome aka

A

trisomy 13

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34
Q

punched out scalp lesions

A

trisomy 13

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35
Q

trisomy 13 features

A

BAD LUCK
Brain (holoprosencephaly and mid scalp lesions)
Airs (low set ears)
Digits (extra)
Leukocytes (nuclear projections in neutrophils)
Uterus (bicornuate w/ hypoplastic ovaries)
Cleft lip and palate
Kidneys (cystic)

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36
Q

consequence of trisomies increases as

A

chromosome # decreases (lower # chromosome = larger)

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37
Q

47 xxy

A

klinefelter

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38
Q

klinefelter features

A

infertile, small testes, socially awkward but normal intelligence, may have delayed motor/speech

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39
Q

cafe au last that indicates NF

A

6 or more that are 5 mm or bigger

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40
Q

happy puppet

A

angelman

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41
Q

angel man features

A

severe DD, speech impairment, ataxia, frequent laughter, easy excitability, acquired microcephaly and seizures

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42
Q

gene error for prader will and angelman

A

15q11-13 (genomic imprinting)

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43
Q

prader wili gene error

A

missing dads 15q11-13

44
Q

angelmans gene error

A

missing mom’s 15q11-13

45
Q

contiguous gene malformations

A

prader wili, angelman, NF1, beckwith wiedmann and williams syndrome, DiGeorge

46
Q

beckwith wiedmann syndrome error

A

alteration in chromosome 11 p15.5

47
Q

Beckwith widmann features

A

hypospadias, omphalocele, macroglossia, microsomia, hypoglycemia, hemihypertrophy from islet cell hyperplasia

48
Q

cocktail party personality

A

williams syndrome

49
Q

williams syndrome features

A

elfin facies, wide spaced teeth, upturned nose, mild intellectual disability, hypercalcemia, supravalvular aortic stenosis

50
Q

heart problem in Williams syndrome

A

supravalvular aortic stenosis

51
Q

Digeorge syndrome error

A

22q11 deletion

52
Q

digeorge syndrome aka

A

velocardialfacial syndrome

53
Q

diverge syndrome features

A 
CATCH-22
Cardiac defects (tetralogy of fallout)
Abnormal facies
Thymic aplasia and immunodeficiency
Cleft palate
Hypoparathyroidism and hypercalcemia
54
Q

how to diagnose digeorge syndrome

A

chromosome microarray

55
Q

diagnostic criteria for fetal alcohol syndrome

A
  1. characteristic facies
  2. deficient brain growth
  3. prenatal and/or postnatal growth retardation
56
Q

dysmorphology of fetal alcohol syndrome

A

flat philtrum, thin vermilion border of upper lip, mid face hypoplasia, short palpebral fissures

57
Q

most common preventable cause of intellectual disability

A

fetal alcohol syndrome

58
Q

most common genetic causes of intellectual disability

A

fragile X and down syndrome

59
Q

maternal smoking results in

A

low birth weight, higher miscarriage, placental abruption, placenta prevue, IUGR, prematurity

60
Q

anticonvulsant facies

A

broad bridge of nose, small anteverted nostril and long upper lip with fingernail hypoplasia

61
Q

phenytoin exposure

A

finger stiffness and severe nail hypoplasia (funny toe’n)

62
Q

carbamazepine exposure

A

facial and neural tube deformities

63
Q

valproic acid exposure

A

facial and neural tube deformities

64
Q

CHARGE association

A 
Coloboma/cognitive defects
Heart disease
Atresia (choanal)
Retarded growth & development
GU abnormalities (genital hypoplasia)
Ear anomalies (hearing loss)
65
Q

VACTER-L association

A 
Vertebral defects
Anal atresia
Cardiac defects/VSD
TE fistula
Radial hypoplasia & Renal abnormalities 
Limb abnormalities
66
Q

VACTER-L association often presents as

A

single umbilical artery

67
Q

craniosynostosis must be recognized prior to

A

5 months (before greatest head growth)

68
Q

normal sutures but abnormal head

A

positional plagiocephaly (parallelogram shape)

69
Q

positional plagiocephaly treatment

A

none

70
Q

unilateral lambdoid synostosis

A

trapezoidal w/ contralateral frontal bossing

71
Q

sagittal synostosis

A

dolichocephaly/scaphocephaly (long and skinny)

72
Q

bilateral coronal synostosis

A

brachycephaly (short and wide)

73
Q

metric synostosis

A

trigonocephaly

74
Q

multiple suture synostosis

A

cloverleaf skull

75
Q

cause of potter syndrome

A

renal agenesis (oligohydramnios sequence)

76
Q

features of potter syndrome

A
  1. pugilist facies
  2. hypoplastic lungs
  3. limb malformations (club feet)
  4. renal agenesis
77
Q

amnion nodosum

A

yellow nodules on skin w/ potter syndrome

78
Q

what do those w/ potter syndrome ultimately die from

A

pulmonary complications

79
Q

rubinstein-taybi syndrome

A

broad thumb, cryptorchidism

80
Q

cause of prune belly syndrome

A

bladder outlet obstruction leading to oligohydramnios

81
Q

Treacher collins features

A

conductive hearing loss, small jaw, ear abnormalities, lower eyelid abnormalities

82
Q

rhizomelic shortening

A

shortening of the proximal part of the limb (achondroplasia)

83
Q

most common cause of sudden death in achondroplasia

A

cervicomedullary junction compression

84
Q

fragile x features

A

males w/ long narrow face w/ prominent forehead and protruding ears, high arched palate, strabismus, hyper flexible joints, macroorchidism, mild intellectual disability

85
Q

most common single gene cause of autism

A

fragile x

86
Q

fragile x testing

A

FMR1 DNA

87
Q

rett syndrome features

A

toddler girl w/ regression of milestones, wringing hands and autistic like behavior

88
Q

first sign in rents syndrome

A

decreased head growth at ~4months

89
Q

Pierre robin sequence

A

cleft palate, micrognathia, posterior tongue, glossoptosis (tongue sticks out because chin so small) can lead to upper airway obstruction and therefore for pulmonale

90
Q

heart defect in trisomy 18

A

VSD

91
Q

williams syndrome error

A

microdeletion of elastin on long arm of chromosome 7

92
Q

WAGR syndrome

A

Wilms tumor
Aniridia
GU malformations
Retardation

93
Q

WAGR syndrome is due to absence of which genes

A

PAX6 and WT1 (wilms tumor 1)

94
Q

Alagille error

A

20p12 deletion (mutation of JAG1 gene)

95
Q

branchio-oto-renal syndrome

A

ear and kidney issues

96
Q

which craniosynostosis is the most common

A

sagittal synostosis

97
Q

broken bones and brain issues

A

OI type 3

98
Q

broken bones but white sclera

A

OI type 4 (hallmark = tibial bowing)

99
Q

wet chamois skin texture, wrinkled palms and soles, abnormal capillary fragility test w/ easy bruising

A

Ehler Danlos

100
Q

cardiac problem in tuberous sclerosis

A

cardiac rhabdomyomas

101
Q

infantile spasms has 50% risk of

A

tuberous sclerosis

102
Q

Waardenburg syndrome

A

partial albinism, white forelock, premature graying, cochlear deafness, female may be born w/o vagina

103
Q

single nail deformity

A

apert syndrome (mitten hand)

104
Q

pancytopenia, hypoplastic thumb and radius, abnormal facies

A

fanconi anemia

105
Q

hirsutism and micromeli in newborn

A

Cornelia delange

106
Q

newborn that is large

A

sotos syndrome

107
Q

accelerated growth w/ hemihypertrophy

A

proteus syndrome

BOARDS (24 decks)

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