Abstract

Fragile X syndrome, a common cause of mental retardation in males, is caused by an expansion of three nucleotides (CGG) at the 5′ end of the familial mental retardation gene ( FMR1 ). Normal individuals have fewer than 40 such repeats, and individuals with between 55 and 200 repeats are clinically asymptomatic but said to have a “premutation.” Those with more than 200 repeats have the full mutation, often resulting in mental retardation due to transcriptional silencing. These repeats …

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