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Article

Fragile-X syndrome: unique genetics of the heritable unstable element.

American journal of human genetics - 1 May 1992

Yu S, Mulley J, Loesch D, Turner G, Donnelly A, Gedeon A, Hillen D, Kremer E, Lynch M, Pritchard M

Abstract excerpt

The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due to increased instability. The...

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PMID: 1570846
PMCID: PMC1682586

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

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