High performing male with fragile X syndrome with an unmethylated full mutation: The relevance of clinical and genetic correlations.

A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 () gene surpassed our expectations into young adulthood. Although initial genetic findings helped make a correct fragile X syndrome (FXS) determination, the report was insufficient. Ten years later, we repeated and conducted additional genetic and clinical studies to determine whether more information could assist with treatment and counseling.