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Article

Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

European journal of medical genetics - 1 Jun 2016

Yi Zhi, Pan Hong, Li Lin, Wu Hairong, Wang Songtao, Ma Yinan, Qi Yu

Abstract excerpt

INTRODUCTION: Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carriers are asymptomatic due to extremely or completely skewed X-inactivation. METHODS: A...

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Source

Identifiers

PMID: 27180140
DOI: 10.1016/j.ejmg.2016.05.004

Genes

MECP2
HCFC1
IRAK1

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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