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

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

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...

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Bibliographic Details
Main Authors: I. Maini, I. Ivanovski, O. Djuric, S. G. Caraffi, E. Errichiello, M. Marinelli, F. Franchi, V. Bizzarri, S. Rosato, M. Pollazzon, C. Gelmini, M. Malacarne, C. Fusco, G. Gargano, S. Bernasconi, O. Zuffardi, L. Garavelli
Format: Article
Language:English
Published: BMC 2018-03-01
Series:Italian Journal of Pediatrics
Subjects:
Array-CGH
Neurodevelopmental disorders
Multiple congenital anomalies
Dysmorphisms
Interpretation
Online Access:http://link.springer.com/article/10.1186/s13052-018-0467-z

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