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Article

Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report.

BMC medical genetics - 25 Nov 2014

Luo Shiyu, Huang Wen, Xia Qiuping, Xia Yan, Du Qian, Wu Lingqian, Duan Ranhui

Abstract excerpt

BACKGROUND: Increasing number of case reports of mosaic mutations and deletions have better armed clinicians and geneticists with more accurate and focused prenatal diagnoses. Since mosaicism means a significant increase of recurrence risk, detailed parental profiling is essential for risk assessments. CASE PRESENTATION: We here describe a clinically unaffected mother with a son who had fragile X syndrome (FXS)...

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Share to Fragile X Mental Retardation Protein
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25421229
DOI: 10.1186/s12881-014-0125-2
PMCID: PMC4411709

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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