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Article

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

Journal of human genetics - 1 Feb 2017

Maia Nuno, Loureiro Joana R, Oliveira Bárbara, Marques Isabel, Santos Rosário, Jorge Paula, Martins Sandra

Abstract excerpt

Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3). We have identified four FXS mosaic males: M1-(CGG)35/(CGG)>200; M2-(CGG)26/(CGG)>200; M3-(CGG)39/(CGG)>200; and M4-(CGG)18/(CGG)125/(CGG)>200. After genotyping their respective mothers, we...

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PMID: 27784894
DOI: 10.1038/jhg.2016.122

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FMR1

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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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