Genetics

Question 1

Robertsonian Translocation

Answer 1

Reciprocal translocation, breaks along acrosome so exchange two p arms or 2 q arms
Can be cause of down syndrome, important to investigate because can impact future children

Question 2

Wolff Hirschorn Syndrome

Answer 2

46xy, Deltion Chromosome 4 p

Sx: dysmorphic greek warrior helmet