Clinical Genetics

Question 1

Mutation of PAX6 causes 11p

Answer 1

Aniridia

Question 2

Mutation of RB1 on 13q causes

Answer 2

retinoblastoma

Question 3

CHRPE is associated with

Answer 3

Familial adenomtous polyposis

Question 4

PAX3 mutation causes

Answer 4

Waardenburg syndrome

Question 5

Abnormal number of cells is called

Answer 5

Aneuploidy

Question 6

Trisomy 21

Answer 6

Down syndrome