Lay-Son, GuillermoEspinoza, KarenaVial, CeciliaRivera, JuanGuzmán, MaríaRepetto, Gabriela2016-05-192016-05-192015Lay-Son G, Espinoza K, Vial C, Rivera JC, Guzmán ML, Repetto GM. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies. J Pediatr (Rio J). 2015 Mar-Apr;91(2):189-95.http://hdl.handle.net/11447/279http://dx.doi.org/10.1016/j.jped.2014.07.003Centro de Genética y GenómicaObjectives 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.en-USMicroarraysCongenital anomaliesDevelopmental disabilitiesDiagnosisCopy number variantsArtículo