New publication of Microgenomics Staff

27 Feb , 2014 [:it]News da Microgenomics[:en]News from Microgenomics[:]

New publication of Microgenomics Staff

We invite you to read an interesting paper recently published in the journal Molecular Cytogenetics .

Microgenomics Staff contributed to the draft of this publication.

This paper gives a detailed clinical description of three female subjects in which the array-CGH analysis showed a duplication in Xq28 involving MECP2 (methyl CpG -binding protein 2 , OMIM 300005 ).

To date, duplication in Xq28 have been reported in male subjects who have dysmorphic facial features , axial hypotonia , severe developmental delay / intellectual disability , recurrent infections.

The female subjects described to date are few and are usually asymptomatic .

The publication , entitled MECP2 duplication phenotype in symptomatic females: report of three further cases, is available on PubMed.

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