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Article

Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effects.

American journal of medical genetics. Part A - 1 Aug 2021

Favilla Bianca Pereira, Meloni Vera Ayres, Perez Ana Beatriz, Moretti-Ferreira Danilo, de Souza Deise Helena, Bellucco Fernanda Teixeira, Melaragno Maria Isabel

Abstract excerpt

Patients with unbalanced X-autosome translocations are rare and usually present a skewed X-chromosome inactivation (XCI) pattern, with the derivative chromosome being preferentially inactivated, and with a possible spread of XCI into the autosomal regions attached to it, which can inactivate autosomal genes and affect the patients' phenotype. We describe three patients carrying different unbalanced X-autosome...

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Identifiers

PMID: 33913603
DOI: 10.1002/ajmg.a.62228

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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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