New publication of Microgenomics Staff

30 May , 2014 [:it]News da Microgenomics[:en]News from Microgenomics[:]

New publication of Microgenomics Staff

We invite you to read an interesting paper recently published on the journal American Journal of Medical Genetics Part A.

Microgenomics Staff contributed to the draft of this publication.

The publication, entitled Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion, gives a detailed clinical description of three new cases showed a microduplication in 5q35 involving NSD1 gene

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 MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation.

The publication is available on Pubmed.

For any further information on this topic or if you can not view the full article , please write us at info@microgenomics.it

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