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Article

Reverse mutations in the fragile X syndrome.

American journal of medical genetics - 9 Aug 1996

Brown W T, Houck G E, Ding X, Zhong N, Nolin S, Glicksman A, Dobkin C, Jenkins E C

Abstract excerpt

Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers, they were found to have inherited a fragile X chromosome from their premutation carrier mothers, and yet had normal size FMR1 repeat alleles. The changes in repeat sizes from mother to daughter was 95 to 35 in the first, 145 to 43 in the second, and 82 to 33 in the third. In the first...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8844067
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<287::AID-AJMG11>3.0.CO;2-B

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.

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

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Reverse mutations in the fragile X syndrome.PMID 8844067Read ↗

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Direct DNA testing for fragile X syndrome.Semantic proximity Read ↗

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

Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses.Semantic proximity Read ↗

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

The fragile X premutation in carriers and its effect on mutation size in offspring.Semantic proximity Read ↗

Fragile X founder effects and new mutations in Finland.Semantic proximity Read ↗

Fragile X gene instability: anchoring AGGs and linked microsatellites.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 ↗

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 ↗

Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.Semantic proximity Read ↗

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