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Article

Finding FMR1 mosaicism in Fragile X syndrome.

Expert review of molecular diagnostics - 1 Jan 2016

Gonçalves Thaís Fernandez, dos Santos Jussara Mendonça, Gonçalves Andressa Pereira, Tassone Flora, Mendoza-Morales Guadalupe, Ribeiro Márcia Gonçalves, Kahn Evelyn, Boy Raquel, Pimentel Márcia Mattos Gonçalves, Santos-Rebouças Cíntia Barros

Abstract excerpt

OBJECTIVE: Almost all patients with Fragile X Syndrome (FXS) exhibit a CGG repeat expansion (full mutation) in the Fragile Mental Retardation 1 gene (FMR1). Here, the authors report five unrelated males with FXS harboring a somatic full mutation/deletion mosaicism. METHODS: Mutational profiles were only elucidated by using a combination of molecular approaches (CGG-based PCR, Sanger sequencing, MS-MLPA, Southern...

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

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Identifiers

PMID: 26716517
DOI: 10.1586/14737159.2016.1135739
PMCID: PMC4956488

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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Finding FMR1 mosaicism in Fragile X syndrome.PMID 26716517Read ↗

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