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Article

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Human genetics - 1 Nov 2014

Fieremans Nathalie, Bauters Marijke, Belet Stefanie, Verbeeck Jelle, Jansen Anna C, Seneca Sara, Roelens Filip, De Baere Elfride, Marynen Peter, Froyen Guy

Abstract excerpt

Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X chromosome (skewing). In rare cases, affected females have been described due to random X-inactivation. Here, we report on two female patients carrying de novo MECP2 microduplications on their fully...

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Source

Identifiers

PMID: 25037250
DOI: 10.1007/s00439-014-1469-6

Genes

MECP2

Provenance

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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