Article
[Pathology of unstable sequence of genome: fragile-X-syndrome].
Comptes rendus des seances de la Societe de biologie et de ses filiales - 1 Jan 1992
Beldjord C, Richard L
Abstract excerpt
Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27-3. This fragile site is an unstable microsatellite repeat, p(CCG). In fragile X syndrome families, this sequence exhibits variable amplification, the length of which correlates with phenotype. Affected persons have both a "full mutation" and abnormal DNA methylation. Subjects with smaller...
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