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Article

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?

American journal of medical genetics. Part A - 1 Mar 2015

Evers Christina, Mitter Diana, Strobl-Wildemann Gertrud, Haug Ulrich, Hackmann Karl, Maas Bianca, Janssen Johannes W G, Jauch Anna, Hinderhofer Katrin, Moog Ute

Abstract excerpt

In females, large duplications in Xp often lead to preferential inactivation of the aberrant X chromosome and a normal phenotype. Recently, a recurrent ∼4.5 Mb microduplication of Xp11.22-p11.23 was found in females with developmental delay/intellectual disability and other neurodevelopmental disorders (speech development disorder, epilepsy or EEG anomalies, autism spectrum disorder, or behavioral disorder)....

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Identifiers

PMID: 25691408
DOI: 10.1002/ajmg.a.36897

Provenance

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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Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?PMID 25691408Read ↗

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