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PAEDS SC1 > Genetics > Flashcards

Genetics Flashcards

1
Q

Additional features of Edwards

A

cryptorchid
short stature
talipes calcaneovalgus

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2
Q

Additional features of Pataus

A

coloboma
IUGR
cutis aplasia

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3
Q

PC age PKU

A

first few months

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4
Q

second mcc genetic mental retardation

A

fragile X syndrome

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5
Q

Noonan Syndrome

A 
AD
- short stature
- trident hairline
- mild mental retardation
- webbed neck
- facies
- pectus excavatum
- heart defects:
ASD, and pulmonary stenosis
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6
Q

heart problems in noonan

A

ASD

PS

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7
Q

heart problems in williams syndrome

A

supravalvular aortic stenosis

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8
Q

first trimester diagnosis of trisomy 21

A

US:
hyperlucency nuchal
hypoplastic nasal bone

decrease PAPP-A
increase beta-hCG

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9
Q

second trimester diagnosis of trisomy 21

A

decrease
alpha fetoprotein
estriol

increase
beta-hCG
inhibin A

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PAEDS SC1 (13 decks)

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