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Article

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.

American journal of medical genetics - 3 Sept 1999

Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T

Abstract excerpt

We describe a 10-month-old girl with abnormal clinical findings and Xp duplication. She showed poor weight gain and developmental retardation, and had several minor anomalies including pigmentary dysplasia (hypomelanosis of Ito). She had a partial short arm duplication in the paternally derived X chromosome, 46,X,dup(X)(p11. 21p21.3), with the normal and duplicated X chromosomes randomly inactivated. These...

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PMID: 10440827

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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