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Am J Med Genet. 1996 Jul 12;64(1):196-7.

Prevalence of fragile X syndrome.

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Hunter Genetics Service, Newcastle, New South Wales, Australia.


The much-quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed ethnic population. A reexamination of the individuals from whom those data were derived using molecular diagnostic techniques demonstrates a more realistic figure of 1:4,000 males.

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