Advances in molecular analysis of fragile X syndrome.

Abstract excerpt

Fragile X syndrome is a common cause of mental retardation that is inherited as an X-linked dominant disorder with reduced penetrance. Fragile X syndrome has been shown to be caused by an unstable CGG repeat within the fragile X mental retardation-1 (FMR1) gene. The repeat is normally polymorphic with six to 52 repeats, while affected males and females exhibit a massive expansion resulting in 230 to more than...

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