Genetics

Question 1

if you have a female presenting with an x-linked condition, what should you check?

Answer 1

chromosomes, to look for turner’s syndrome

Question 2

what sign should you check for in suspected duchenne’s muscular dystrophy?

Answer 2

gower’s sign - ask them to get up off the floor

Question 3

what tests can you check in a boy with suspected duchenne’s?

Answer 3

elevated CK, molecular testing of dystrophin gene

Question 4

healthy sib of a child with an AR disorder - what are the chances that the sib is a carrier?

Answer 4

67%

Question 5

child with infantile spasms, what could be an underlying condition

Answer 5

tuberous sclerosis