Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation.

doi:10.1034/j.1399-0004.2000.580204.x

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Article

Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation.

Clinical genetics - 1 Aug 2000

Kallinen J, Heinonen S, Mannermaa A, Ryynänen M

Abstract excerpt

The aim of the present study was to evaluate prospectively the dynamics of the FMR1 gene. The risk of full mutation among pregnant women and the carriers, and the risk of expansion of a premutation allele to a full mutation were estimated. We identified 89 pregnant women with an expanded FMR1 gene seeking prenatal diagnosis. Amniocentesis or chorion villus sampling (CVS) was offered and a DNA test of the FMR1...

Topics

Adult
Blotting, Southern
Child
DNA
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Testing
Humans
Male
Mutation
Nerve Tissue Proteins
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis
Prevalence
Prospective Studies
RNA-Binding Proteins

Source

Open in PubMed

Identifiers

PMID: 11005143
DOI: 10.1034/j.1399-0004.2000.580204.x

Genes

FMR1

Provenance

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

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