Prevalence of fragile X syndrome

Am J Med Genet. 1996 Jul 12;64(1):196-7. doi: 10.1002/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G.


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.

MeSH terms

  • Female
  • Fragile X Syndrome / epidemiology*
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Mutation
  • Prevalence