Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

• Autor(a) principal: Lay-Son,Guillermo
• Data de Publicação: 2015
• Outros Autores: Espinoza,Karena, Vial,Cecilia, Rivera,Juan C., Guzmán,María L., Repetto,Gabriela M.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Jornal de Pediatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000200189
• topic: Microarrays; Congenital anomalies; Developmental disabilities; Copy number variants; Diagnosis

OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm) HD Array, Affymetrix, Inc., Santa Clara, CA, USA). Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs) were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.