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

doi:10.1016/j.ogc.2010.03.004

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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...

Topics

Aged
Aged, 80 and over
DNA-Binding Proteins
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Carrier Screening
Genetic Counseling
Genetic Predisposition to Disease
Genetic Testing
Humans
Male
Middle Aged
Mutation
Pregnancy
Prenatal Diagnosis

Source

Open in PubMed

Identifiers

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

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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