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Key Fact
Fragile X syndrome is more common in males than in females, due to it being an X-linked disorder.

History and Prevalence of Fragile X Syndrome


Prevalence

The prevalence of fragile X syndrome differs between males and females, with estimates of 1 in 4000 for males and 1 in 8000 for females.

 

History

 James Purdon Martin and Julia Bell first described fragile X syndrome in 1943. They reported a family case study in which intellectual disability appeared to be inherited and linked to the X chromosome.

In 1969, Herbert Lubs made the observation of a characteristic fragile site on the lower end of the X chromosome.

The FMR1 gene on the X chromosome that is associated with fragile X syndrome was identified and sequenced in 1991. To read more about the genetics of fragile X syndrome, click here.

 

 

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