Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

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™ 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. © 2014 sociedade brasileira de pediatria.