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Article

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother.

American journal of medical genetics. Part A - 1 Feb 2010

Pomponi M Grazia, Pietrobono Roberta, Neri Caterina, Chiurazzi Pietro, Neri Giovanni

Abstract excerpt

We report on the fortuitous finding of a paternal premutation of the FMR1 gene during prenatal diagnosis in a female fetus whose mother was known to be a premutation carrier. Analysis of the DNA, extracted from cultured cells obtained by chorionic villus sampling, demonstrated the presence in the fetus of two FMR1 alleles of 23 and 71 CGG repeats, respectively. Chromosome analysis confirmed a normal female...

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Source

Identifiers

PMID: 20082462
DOI: 10.1002/ajmg.a.33213

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.

Related research

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Research trail→

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Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother.PMID 20082462Read ↗

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.Semantic proximity Read ↗

[Results of carrier screening and prenatal diagnosis for FMR1 gene in 819 cases].Semantic proximity Read ↗

Compound heterozygosity at the FMR1 gene.Semantic proximity Read ↗

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.Semantic proximity Read ↗

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.Semantic proximity Read ↗

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.Semantic proximity Read ↗

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.Semantic proximity Read ↗

Frequency and stability of the fragile X premutation.Semantic proximity Read ↗

The FMR1 premutation and reproduction.Semantic proximity Read ↗

Broad clinical involvement in a family affected by the fragile X premutation.Semantic proximity Read ↗

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.Semantic proximity Read ↗

The role of AGG interruptions in the transcription of FMR1 premutation alleles.Semantic proximity Read ↗

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