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Article

De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features.

Gene - 25 Jul 2013

Neira Vivian Alejandra, Romero-Espinoza Pavel, Rojas-Martínez Augusto, Ortiz-López Rocío, Córdova-Fletes Carlos, Plaja Alberto, Barros-Núñez Patricio

Abstract excerpt

Xq28 duplication, including the MECP2 gene, is among the most frequently identified Xq subtelomeric rearrangements. The resulting clinical phenotype is named Lubs syndrome and mainly consists of intellectual disability, congenital hypotonia, absent speech, recurrent infections, and seizures. Here we report a Mexican male patient carrying a supernumerary marker chromosome with de novo Xq28 gain. By MLPA,...

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Source

Identifiers

PMID: 23639959
DOI: 10.1016/j.gene.2013.04.029

Genes

MECP2
GDI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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