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Flashcards in Genetics Deck (5)
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1

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

chromosomes, to look for turner's syndrome

2

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

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

3

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

elevated CK, molecular testing of dystrophin gene

4

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

67%

5

child with infantile spasms, what could be an underlying condition

tuberous sclerosis