Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype Análise de anomalias cromossômicas por CGH-array em pacientes com dismorfias e deficiência intelectual com cariótipo normal

ABSTRACT Objective: To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods: Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results: Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion: The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment. Keywords: Chromosome aberrations; Comparative genomic hybridization/methods; Karyotype; Body dysmorphic disorders; Intellectual disability RESUMO Objetivo: Avaliar microalteracoes cromossomicas por CGH- array em portadores de dismorfias e deficiencia intelectual com cariotipo normal.