Author(s): Carreira, IM ; Ferreira, SI ; Matoso, E ; Pires, LM ; Ferrão, J ; Jardim, A ; Mascarenhas, A ; Pinto, M ; Lavoura, N ; Pais, C ; Paiva, P ; Simões, L ; Caramelo, F ; Ramos, L ; Venâncio, M ; Ramos, F ; Beleza, A ; Sá, J ; Saraiva, J ; Barbosa de Melo, J
Date: 2015
Persistent ID: http://hdl.handle.net/10400.4/2075
Origin: Repositório do Centro Hospitalar e Universitário de Coimbra
Subject(s): Anomalias Congénitas Múltiplas; Perturbação Autística; Deficiência Intelectual
Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV).
