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Article

Mosaicism for a full mutation and a normal size allele in two fragile X males.

American journal of medical genetics - 28 May 1999

Schmucker B, Seidel J

Abstract excerpt

Confirmation of the clinical diagnosis of fragile X syndrome by molecular tests is based on both the presence of a full mutation and methylation of the promotor region of the FMR1 gene. The mechanism leading to mosaic alleles of repeat number and the role of methylation in this process is still under discussion. We report two cases of males who show mosaic patterns for both number of CGG repeats and methylation...

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Source

Identifiers

PMID: 10331596

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

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Mosaicism for a full mutation and a normal size allele in two fragile X males.PMID 10331596Read ↗

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Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.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 ↗

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

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

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.Semantic proximity Read ↗

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Size and methylation mosaicism in males with Fragile X syndrome.Semantic proximity Read ↗

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

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