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Article

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.

Gene - 15 Sept 2013

Ferreira Susana Isabel, Pires Luís Miguel, Ferrão José, Sá Joaquim, Serra Armando, Carreira Isabel Marques

Abstract excerpt

Fragile X syndrome is caused by the expansion of an unstable CGG repeat in the 5'UTR of FMR1 gene. The occurrence of mosaicism is not uncommon, especially in male patients, whereas in females it is not so often reported. Here we report a female foetus that was subject to prenatal diagnosis, because of her mother being a premutation carrier. The foetus was identified as being a mosaic for an intermediate allele...

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

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Share to Fragile X Mental Retardation Protein

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Source

Identifiers

PMID: 23792063
DOI: 10.1016/j.gene.2013.05.079

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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