Fragile X syndrome epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

The prevalence of female carrier status has been estimated to be as high as 1 in 130-250 population; the prevalence of male carrier status is estimated to be 1 in 250-800 population. However, disease manifestations are seen in lesser number of people.

Epidemiology and Demographics

The prevalence of Fragile X syndrome is approximately 1 in 5000 men and 1 in 4000-6000 women worldwide, determined by molecular assays. Fragile X Syndrome has been diagnosed in approximately 3 percent of boys with significant neurodevelopmental disorders.