{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T20:58:18Z","timestamp":1778705898342,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,10]],"date-time":"2016-02-10T00:00:00Z","timestamp":1455062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>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 <jats:italic>MEF2C<\/jats:italic>. We describe the prenatal identification of 5q14.3 duplication, including <jats:italic>MEF2C<\/jats:italic>, 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 <jats:italic>MEF2C<\/jats:italic> overexpression in brain development may be assumed, but further studies are needed. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37594","type":"journal-article","created":{"date-parts":[[2016,2,11]],"date-time":"2016-02-11T04:21:17Z","timestamp":1455164477000},"page":"1352-1357","source":"Crossref","is-referenced-by-count":14,"title":["Prenatal detection of 5q14.3 duplication including <i>MEF2C<\/i> and brain phenotype"],"prefix":"10.1002","volume":"170","author":[{"given":"Claudia","family":"Cesaretti","sequence":"first","affiliation":[{"name":"Medical Genetics Unit Fondazione I.R.C.C.S. Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[{"name":"Fetal Therapy Unit Department of Obstetrics and Gynaecology Children's Hospital V. Buzzi Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Righini","sequence":"additional","affiliation":[{"name":"Department of Radiology and Neuroradiology Children's Hospital V. Buzzi Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Parazzini","sequence":"additional","affiliation":[{"name":"Department of Radiology and Neuroradiology Children's Hospital V. Buzzi Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Conte","sequence":"additional","affiliation":[{"name":"Department of Radiology and Neuroradiology Children's Hospital V. 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