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Article

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

Prenatal diagnosis - 1 Sept 1995

Castellví-Bel S, Milà M, Soler A, Carrió A, Sánchez A, Villa M, Jiménez M D, Estivill X

Abstract excerpt

Fragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)n trinucleotide repeat in the FMR-1 gene and hypermethylation of its 5' upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylat...

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Source

Identifiers

PMID: 8559749
DOI: 10.1002/pd.1970150903

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-8559749-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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