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Article

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

American journal of medical genetics. Part A - 15 May 2008

Monnot Sophie, Giuliano Fabienne, Massol Christophe, Fossoud Catherine, Cossée Mireille, Lambert Jean-Claude, Karmous-Benailly Houda

Abstract excerpt

Partial duplications of the short arm of the X chromosome are relatively rare and have been described in males and females. We describe a 4 10/12-year-old girl presenting with developmental delay, severe language retardation and minor anomalies with slightly elevated head circumference (+1.8 SD), prominent forehead, wide palpebral fissures and anteverted nares. No pigmentary dysplasia of the skin was present. The...

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Share to Chromosomes, Human, X
Share to Craniofacial Abnormalities

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

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 18412111
DOI: 10.1002/ajmg.a.32238

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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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