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Article

Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.

International journal of molecular sciences - 24 May 2023

Ciobanu Cristian-Gabriel, Nucă Irina, Popescu Roxana, Antoci Lucian-Mihai, Caba Lavinia, Ivanov Anca Viorica, Cojocaru Karina-Alexandra, Rusu Cristina, Mihai Cosmin-Teodor, Pânzaru Monica-Cristina

Abstract excerpt

The diagnosis and management of fragile X syndrome (FXS) have significantly improved in the last three decades, although the current diagnostic techniques are not yet able to precisely identify the number of repeats, methylation status, level of mosaicism, and/or the presence of AGG interruptions. A high number of repeats (>200) in the fragile X messenger ribonucleoprotein 1 gene (FMR1) results in...

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

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Identifiers

PMID: 37298158
DOI: 10.3390/ijms24119206
PMCID: PMC10252420

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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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