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Prenatal detection of 5q14.3 duplication including <i>MEF2C</i> and brain phenotype

10 Feb 2016

Abstract excerpt

The 5q14.3 duplication is a rare condition comprising speech and developmental delay, microcephaly, and mild ventriculomegaly. The region 5q14.3 contains several genes but the predominant role for the onset of the neurodevelopmental phenotype has been attributed to MEF2C. We describe the prenatal identification of 5q14.3 duplication, including MEF2C, in a monochorionic twin pregnancy with corpus callosum...

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PMID: 26864752
DOI: 10.1002/ajmg.a.37594

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