Fragile X syndrome - Molecular and clinical insights and treatment issues

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Abstract

The fragile X syndrome is the most common inherited cause of mental retardation that is known. The prevalence of mental retardation from this syndrome ranges from 1 in 1,250 to 1 in 4,000 in the general population, although the prevalence of female carriers has been reported to be as high as 1 in 259. The discovery of the FMR1 gene mutation in 1991 has simplified diagnosis, enhanced our understanding of the spectrum of involvement in the fragile X syndrome, and stimulated research regarding the normal function of the FMR1 protein in brain development. Advances have also occurred in the treatment of the fragile X syndrome, and psychopharmacologic and educational interventions are reviewed here.

Original languageEnglish (US)
Pages (from-to)129-137
Number of pages9
JournalWestern Journal of Medicine
Volume166
Issue number2
StatePublished - 1997
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)

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