Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 5, Pages 1352-1357Publisher
WILEY
DOI: 10.1002/ajmg.a.37594
Keywords
MEF2C; 5q14.3 duplication; array-CGH; corpus callosum; rare diseases
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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 anomalies, confirmed by autopsy. To the best of our knowledge, this cerebral finding has been observed for the first time in 5q14.3 duplication patients, possibly widening the neurological picture of this scarcely known syndrome. A pathogenetic role of MEF2C overexpression in brain development may be assumed, but further studies are needed. (C) 2016 Wiley Periodicals, Inc.
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