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Article

Prenatal carrier testing for fragile X: counseling issues and challenges.

Obstetrics and gynecology clinics of North America - 1 Mar 2010

Musci Thomas J, Moyer Krista

Abstract excerpt

Healthy women who carry a ''premutation'' in the FMR1 gene (or fragile X mental retardation protein) can pass on a further mutated copy of FMR1 to either male or female offspring, leading to fragile X syndrome (FXS). Premutation carriers do not have manifestations of FXS in cognitive deficits, behavioral abnormalities, or classic physical features, but are at increased risk for development of the ''fragile...

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Source

Identifiers

PMID: 20494258
DOI: 10.1016/j.ogc.2010.03.004

Genes

FMR1

Provenance

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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