title: Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.
abstract: 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.
authors: Medical Genetics Unit, Fondazione I.R.C.C.S. Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors: Claudia
authors: C
authors: Cesaretti
authors: Fetal Therapy Unit, Department of Obstetrics and Gynaecology, Children's Hospital V. Buzzi, Milan, Italy.
authors: Luigina
authors: L
authors: Spaccini
authors: Department of Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy.
authors: Andrea
authors: A
authors: Righini
authors: Department of Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy.
authors: Cecilia
authors: C
authors: Parazzini
authors: Department of Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy.|Department of Health Sciences, Specialization School of Radiology, University of Milan, Milan, Italy.
authors: Giorgio
authors: G
authors: Conte
authors: Medical Genetics Lab, Pathology Unit, San Gerardo Hospital, Monza, Italy.
authors: Francesca
authors: F
authors: Crosti
authors: Department of Surgery and Traslational Medicine, University of Milano-Bicocca, Monza, Italy.
authors: Serena
authors: S
authors: Redaelli
authors: Department of Health Sciences, San Paolo Hospital Medical School, University of Milan, Milan, Italy.
authors: Gaetano
authors: G
authors: Bulfamante
authors: Department of Health Sciences, San Paolo Hospital Medical School, University of Milan, Milan, Italy.
authors: Laura
authors: L
authors: Avagliano
authors: Fetal Therapy Unit, Department of Obstetrics and Gynaecology, Children's Hospital V. Buzzi, Milan, Italy.
authors: Mariangela
authors: M
authors: Rustico
mesh_terms: D000328:Adult; D001344:Autopsy; D001921:Brain / Q000000981:diagnostic imaging / Q000254:growth & development / Q000503:physiopathology*; D058674:Chromosome Duplication / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D064326:MEF2 Transcription Factors / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human
keywords: 5q14.3 duplication; MEF2C; array-CGH; corpus callosum; rare diseases