Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype

Claudia Cesaretti, Luigina Spaccini, Andrea Righini, Cecilia Parazzini, Giorgio Conte, Francesca Crosti, Serena Redaelli, Gaetano Bulfamante, Laura Avagliano, Mariangela Rustico

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1352-1357
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
Publication statusPublished - May 1 2016


  • 5q14.3 duplication
  • Array-CGH
  • Corpus callosum
  • MEF2C
  • Rare diseases

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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