MECP2 duplication phenotype in symptomatic females: report of three further cases.

2 apr , 2014 News dal Mondo

Mol Cytogenet. 2014 Jan 28

Authors

Novara F1, Simonati A, Sicca F, Battini R, Fiori S, Contaldo A, Criscuolo L, Zuffardi O, Ciccone R.

Abstract

BACKGROUND: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including  …continua a leggere!

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