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Article

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.

Science (New York, N.Y.) - 24 May 1991

Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boué J, Bertheas M F, Mandel J L

Abstract excerpt

The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance. Phenotypic expression has been linked to abnormal cytosine methylation of a single CpG island, at or very near the fragile site. Probes adjacent to this island detected very localized DNA rearrangements that constituted the fragile X mutations, and whose target was a 550-base pair GC-rich...

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Identifiers

PMID: 2031184
DOI: 10.1126/science.252.5009.1097

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The fragile X syndrome: implications of molecular genetics for the clinical syndrome.Semantic proximity Read ↗

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