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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 correlat...

Topics

DNA
Female
Fragile X Syndrome
Humans
Male
Mutation
Repetitive Sequences, Nucleic Acid

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1301224

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1301224-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.Semantic proximity Read ↗

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