Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

doi:10.1038/ejhg.2008.208

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Article

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

European journal of human genetics : EJHG - 1 Apr 2009

Lugtenberg Dorien, Kleefstra Tjitske, Oudakker Astrid R, Nillesen Willy M, Yntema Helger G, Tzschach Andreas, Raynaud Martine, Rating Dietz, Journel Hubert, Chelly Jamel, Goizet Cyril, Lacombe Didier, Pedespan Jean-Michel, Echenne Bernard, Tariverdian Gholamali, O'Rourke Declan, King Mary D, Green Andrew, van Kogelenberg Margriet, Van Esch Hilde, Gecz Jozef, Hamel Ben C J, van Bokhoven Hans, de Brouwer Arjan P M

Abstract excerpt

Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplications including MECP2 has yet to be determined in patients with unexplained X-linked mental retardation and...

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Identifiers

PMID: 18985075
DOI: 10.1038/ejhg.2008.208
PMCID: PMC2986218

Genes

MECP2

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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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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.PMID 18985075Read ↗

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