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Fragile X Syndrome

Reference work entry

Fragile X syndrome is the most common form of heritable mental retardation affecting approximately 1 in 1,250 males and 1 in 2,000 females (Webb 1989). The prevalence appears to be 1 in 4,000–6,000 males and 1 in 8,000–10,000 females. Martin and Bell first documented X-linked mental retardation in 1943. Subsequent identification of a fragile site on the long arm of the X chromosome (Lubs 1969), discovery of cell culture medium-dependent fragile site, and recognition of a unique constellation of physical features served to distinguish fragile X syndrome from other X-linked mental retardation syndromes.

In Verkerk et al. (1991) identified a single gene that was associated with symptoms of the disorder. The gene, known as fragile X mental retardation gene 1 (FMR1), exhibited a novel form of mutation, a sequence of three nucleotides (CGG) that was repeated many times in patients with fragile X syndrome.

Synonyms and Related Disorders

Fragile X mental retardation syndrome; Marker X...

Keywords

Mental Retardation Mitral Valve Prolapse Repeat Size Full Mutation Premutation Carrier 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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