Genetics

Question 1

Answer 1

Williams Syndrome

Supravalvular aortic stenosis, hypercalcemia, cocktail party personality

periorbital fullness, long philtrum, stellate lacy iris pattern

Question 2

Answer 2

Trisomy 13, Patau syndrome

verlapping fingers, clubfoot, punched out scalp lesions

Question 3

Answer 3

Trisomy 18, Edwards syndrome

prominent occiput, low set, posteriorly rotated ears, rocker bottom feet

Question 4

Answer 4

Turner syndrome. webbed neck, micrognathia, wide spaced nipples, shield chest, lymphedema