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16 yr old with hand flapping,meager vocabulary and development disorder since birth plus macro orchidism...2 maternal uncles have mental retardation ...he has 4 sisters and parents appear healthy...how many of the sisters will have carrier state.
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Posts: 3,675,934
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n yes theres tri nucleotide expansion tooo
Posts: 3,675,934
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should i type this again??
to my understanding if its trinucleotide expansion and macrorchidism ...points towrds fragile x syndrome...but then how can b the parents b healthy...its x linked dominant..kindly helppp