Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.

ABSTRACT: Neurodevelopmental disorders are a group of complex multifactorial disorders characterized by cognitive impairment, communication deficits, abnormal behaviour, and/or motor skills resulting from abnormal neural development. Copy number variants (CNVs) are genetic alterations often associated with neurodevelopmental disorders. We evaluated the diagnostic efficacy of the array-comparative genomic hybridization (a-CGH) method and its relevance as a routine diagnostic test in patients with neurodevelopmental disorders for the identification of the molecular alterations underlying or contributing to the clinical manifestations. In the present study, we analysed 1800 subjects with neurodevelopmental disorders using a CGH microarray. We identified 208 (7%) pathogenetic CNVs, 2202 (78%) variants o

SUBMITTER: Ranieri A 

PROVIDER: S-EPMC11050211 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature