Flashcards in Genetics Deck (5)
if you have a female presenting with an x-linked condition, what should you check?
chromosomes, to look for turner's syndrome
what sign should you check for in suspected duchenne's muscular dystrophy?
gower's sign - ask them to get up off the floor
what tests can you check in a boy with suspected duchenne's?
elevated CK, molecular testing of dystrophin gene
healthy sib of a child with an AR disorder - what are the chances that the sib is a carrier?