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Article

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

Human molecular genetics - 1 Oct 1994

van den Ouweland A M, Deelen W H, Kunst C B, Uzielli M L, Nelson D L, Warren S T, Oostra B A, Halley D J

Abstract excerpt

The mutation observed in the fragile X syndrome, an X-linked inherited disorder causing mental retardation, is almost exclusively an expanded CGG repeat in the first exon of the FMR1 gene. Here we describe a daughter of a female carrier, who inherited the fragile X premutation chromosome based on haplotype analysis using flanking markers. However, the CGG repeat sequence and the intragenic polymorphic marker FMRb...

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Source

Identifiers

PMID: 7849707
DOI: 10.1093/hmg/3.10.1823

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

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.PMID 7849707Read ↗

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 ↗

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

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

Paternal transmission of a FMR1 full mutation allele.Semantic proximity Read ↗

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

Origins of the fragile X syndrome mutation.Semantic proximity Read ↗

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

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

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

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.Semantic proximity Read ↗

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.Semantic proximity Read ↗

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