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Article

A small and active ring X chromosome in a female with features of Kabuki syndrome.

American journal of medical genetics. Part A - 1 Nov 2008

Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo F L, Martínez-Fernández M L, Arroyo-Muñoz M E, Martínez-Frías M L

Abstract excerpt

A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the...

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

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Source

Identifiers

PMID: 18925662
DOI: 10.1002/ajmg.a.32521

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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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