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Article

Mosaicism in fragile X affected males.

American journal of medical genetics - 15 Jul 1994

Nolin S L, Glicksman A, Houck G E, Brown W T, Dobkin C S

Abstract excerpt

Fragile X affected males have an expansion of a CGG repeat and a hypermethylated CpG island 5' to the FMR-1 gene. Mosaic males with both a premutation and full mutation have been noted among the affected individuals. Such mosaic males are most easily identified by the presence of a methylated restriction fragment characteristic of the full mutation and an additional unmethylated fragment in the premutation range...

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Source

Identifiers

PMID: 7943031
DOI: 10.1002/ajmg.1320510444

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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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Mosaicism in fragile X affected males.PMID 7943031Read ↗

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.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 ↗

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

A cryptic full mutation in a male with a classical fragile X phenotype.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 ↗

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

Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin.Semantic proximity Read ↗

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Mosaicism for a full mutation and a normal size allele in two fragile X males.Semantic proximity Read ↗

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.Semantic proximity Read ↗

Finding FMR1 mosaicism in Fragile X syndrome.Semantic proximity Read ↗

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