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Article

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

American journal of medical genetics - 9 Aug 1996

Kambouris M, Snow K, Thibodeau S, Bluhm D, Green M, Feldman G L

Abstract excerpt

Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had an FMR-1 allele in the normal range and a large premutation, with normal methylation. The maternal grandmother had two...

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Identifiers

PMID: 8844092
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<404::AID-AJMG34>3.0.CO;2-H

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

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Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.PMID 8844092Read ↗

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

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

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

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

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.Semantic proximity Read ↗

Paternal transmission of fragile X syndrome.Semantic proximity Read ↗

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

Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome.Semantic proximity Read ↗

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.Semantic proximity Read ↗

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.Semantic proximity Read ↗

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.Semantic proximity Read ↗

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