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Article

Population-based FMR1 carrier screening among reproductive women.

Journal of assisted reproduction and genetics - 1 Nov 2024

Ain Quratul, Hwang Ye Hyun, Yeung Daryl, Panpaprai Pacharee, Iamurairat Wiwat, Chutimongkonkul Wiboon, Trachoo Objoon, Tassone Flora, Jiraanont Poonnada

Abstract excerpt

PURPOSE: Fragile X syndrome (FXS) is a neurodevelopmental disorder, caused by an CGG repeat expansion (FM, > 200 CGG) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Female carriers of a premutation (PM; 55-200 CGG) can transmit the PM allele, which, depending on the CGG allele size, can expand to an allele in the FM range in the offspring. METHODS: Carrier screening for FMR1 PM is not available in...

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Identifiers

PMID: 39320553
DOI: 10.1007/s10815-024-03242-2
PMCID: PMC11621265

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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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