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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