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Article

Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline.

American journal of medical genetics. Part A - 1 May 2024

Ramírez-Cheyne Julián, López Diana, Payán-Gómez César, Arcos-Burgos Mauricio, Saldarriaga Wilmar

Abstract excerpt

The FMR1 5' regulation gene region harbors a CGG trinucleotide repeat expansion (CGG-TRE) that causes Fragile X syndrome (FXS) when it expands to more than 200 repetitions. Ricaurte is a small village in southwestern Colombia, with an FXS prevalence of 1 in 38 men and 1 in 100 women (~100 times higher than the worldwide reported prevalence), defining Ricaurte as the largest FXS cluster in the world. In the...

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Identifiers

PMID: 38164622
DOI: 10.1002/ajmg.a.63523

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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