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boards prep > genetics > Flashcards

genetics Flashcards

1
Q

GA for chorionic villus sampling

A

12 weeks

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2
Q

GA for amniocentesis

A

16 weeks

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3
Q

XL dominant conditions

A

hypophosphatemic rickets
pseudohypoparathyroidism
Aicardi syndrome
Alport syndrome

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4
Q

penetrance

A

some people exhibit the phenotype of the gene and some don’t

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5
Q

expression

A

range of phenotypes for people with same genetic condition

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6
Q

when to order FISH testing

A

looking for contiguous gene deletions or duplications - copy number variants

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7
Q

short stature, webbed neck, L-sided congenital cardiac defects

A

45XO, Turner syndrome
higher likelihood of diabetes or IBD
elevated FSH

karyotype, FISH for mosaicism

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8
Q

webbed neck, downslanting eyes, triangular facies, hearing loss, pectus carinatum/excavatum, cryptorchidism, MR, pulmonary stenosis

A

Noonan syndrome

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9
Q

inheritance/genetics of Marfan

A

AD

fibrillin gene on Chr 15

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10
Q

asymmetric pectus carinatum

A

Marfan

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11
Q

translocation and risk of transmission

A

15% if partial, 100% if full

higher if mother is carrier of translocation

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12
Q

increased risk of which things with T21

A

leukemia
duodenal atresia
AV canal defects (NW axis on EKG)
atlantoaxial instability

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13
Q

rocker bottom feet, overlapping fingers, microcephaly, horseshoe kidneys

A

T18

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14
Q

polydactyly, cutis aplasia, cleft lip/palate, cystic kidneys, abnormal female GU

A

T13

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15
Q

tall, infertile teen, small testes, normal intelligence but social awkwardness, gynecomastia

A

Klinefelter (47XXY)

tx: testosterone supplementation

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16
Q

neonatal hypotonia and FTT –> obesity, small testicles, ID

A

Prader Willi
15q11
methylation test

17
Q

frequent laughter, ataxia, speech impairment, spasticity/jerky movements

A

Angelman
15q11
methylation test

18
Q

omphalocele, macroglossia, hypoglycemia, hemihypertrophy

A

Beckwith Wiedemann

dx methylation test

19
Q

malignancy risk with Beckwith Wiedemann

A

embryonal tumors-
rhabdomyosarcoma
Wilms
neuroblastoma

20
Q

screening needed in Beckwith Wiedemann

A

AFP q 6 weeks

abdominal US every 3 months

21
Q

elfin face, wide spaced teeth, very friendly, hypercalcemia, supravalvular aortic stenosis

A

Williams syndrome

chr 7

22
Q

genetics/inheritance of DiGeorge

A

AD inheritance
22q11
dx with microarray

23
Q

genetics/inheritance of CHARGE

A

AD (spontaneous) mutations in CHD7 gene

24
Q

broad thumb, cryptorchidism

A

Rubenstein Taybi

25
Q

broad thumbs and toes, widely spaced prominent eyes

A

Pfeiffer syndrome

26
Q

male with ID, long narrow face, protruding ears, high arched palate, macroorchidism

A

Fragile X
CCG expansion
need fragile X testing

27
Q

flat philtrum, thin vermilion border, midface hypoplasia

A

FAS

28
Q

risks with maternal smoking

A 
LBW
miscarriage
placental abruption/previa
cleft lip/palate
respiratory prolems
SIDS
deficits in mental development, language, ADHD, IQ
29
Q

neural tube deficits and facial deformities

A

valproic acid or carbamazepine exposure

30
Q

finger stiffness, nail hypoplasia, cardiac anomalies

A

phenytoin

31
Q

Potter syndrome

A

renal agenesis –>
facies
hypoplastic lungs
limb malformations

“glove like” excess skin on hands, fetal membranes with yellowish nodules

32
Q

triangle face, growth retardation

A

Russell Silver

33
Q

cause of prune belly

A

bladder outlet obstruction –> oligohydramnios

undescended testes

34
Q

facial abnormalities, conductive hearing loss, normal IQ

A

Treacher Collins

AD inheritance

35
Q

complications of achondroplasia

A

lumbar lordosis
small foramen magna –> nerve root compression
sleep apnea
increased risk of SIDS

boards prep (34 decks)

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