Genetics

Question 1

Additional features of Edwards

Answer 1

cryptorchid
short stature
talipes calcaneovalgus

Question 2

Additional features of Pataus

Answer 2

coloboma
IUGR
cutis aplasia

Question 3

PC age PKU

Answer 3

first few months

Question 4

second mcc genetic mental retardation

Answer 4

fragile X syndrome

Question 5

Noonan Syndrome

Answer 5

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

Question 6

heart problems in noonan

Answer 6

ASD

PS

Question 7

heart problems in williams syndrome

Answer 7

supravalvular aortic stenosis

Question 8

first trimester diagnosis of trisomy 21

Answer 8

US:
hyperlucency nuchal
hypoplastic nasal bone

decrease PAPP-A
increase beta-hCG

Question 9

second trimester diagnosis of trisomy 21

Answer 9

decrease
alpha fetoprotein
estriol

increase
beta-hCG
inhibin A