Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

• Main Authors: I. Maini (Author), I. Ivanovski (Author), O. Djuric (Author), S. G. Caraffi (Author), E. Errichiello (Author), M. Marinelli (Author), F. Franchi (Author), V. Bizzarri (Author), S. Rosato (Author), M. Pollazzon (Author), C. Gelmini (Author), M. Malacarne (Author), C. Fusco (Author), G. Gargano (Author), S. Bernasconi (Author), O. Zuffardi (Author), L. Garavelli (Author)
• Format: Book
• Published: BMC, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical...