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

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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 propensit...

Topics

Blotting, Southern
Deoxyribonucleases, Type II Site-Specific
Female
Fragile X Syndrome
Genetic Variation
Heterozygote
Humans
Male
Methylation
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid
X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 1570846
PMCID: PMC1682586

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1570846-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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