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Article

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.

Genetic testing - 1 Jan 2003

Gasteiger M, Grasbon-Frodl E, Neitzel B, Kooy F, Holinski-Feder E

Abstract excerpt

The Fragile X syndrome is, in the majority of cases, caused by CGG trinucleotide amplification within the FMR1 gene. The syndrome is rarely caused by point mutations or deletions. Here we describe a family with 2 sons and 1 daughter affected by Fragile X syndrome and 2 unaffected daughters whose carrier status was unknown prior to this study. Analysis of DNA from each of the 2 daughters revealed two alleles in...

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Share to Fragile X Mental Retardation Protein
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Source

Identifiers

PMID: 15000806
DOI: 10.1089/109065703322783653

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.PMID 15000806Read ↗

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

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

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.Semantic proximity Read ↗

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.Semantic proximity Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.Semantic proximity Read ↗

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.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 ↗

Fragile X syndrome and deletions in FMR1: new case and review of the literature.Semantic proximity Read ↗

Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.Semantic proximity Read ↗

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.Semantic proximity Read ↗

Maternal FMR1 premutation allele expansion and contraction in fraternal twins.Semantic proximity Read ↗

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