Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients

• Autor(a) principal: Carreira, IM
• Data de Publicação: 2015
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.4/2075
• topic: 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).