Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
Journal Title: Jornal de Pediatria - Year 2015, Vol 91, Issue 2
Abstract
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.
Authors and Affiliations
Guillermo Lay-Son
Keywords
Related Articles
- EP ID EP560389
- DOI 10.1016/j.jped.2014.07.003
- Views 65
- Downloads 0
Physical fitness and activity, metabolic profile, adipokines and endothelial function in children
Objectives The prevalence of obesity is increasing. The aim of this study was to investigate if there is endothelial dysfunction in children with normal or excess weight, and whether the metabolic profile, adipokines, an...
Efficacy of passive hypothermia and adverse events during transport of asphyxiated newborns according to the severity of hypoxic-ischemic encephalopathy
Objective To determine if the efficacy of passive hypothermia and adverse events during transport are related to the severity of neonatal hypoxic-ischemic encephalopathy. Methods This was a retrospective study of 67 inf...
Calcium intake by adolescents: a population-based health survey
Objective To analyze calcium intake in adolescents according to sociodemographic variables, health-related behaviors, morbidities, and body mass index. Methods This was a cross-sectional population-based study, with a t...
Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program
Objective To characterize the deaths of 193 children with sickle cell disease screened by a neonatal program from 1998 to 2012 and contrast the initial years with the final years. Methods Deaths were identified by activ...
Accuracy of serum IgE concentrations and papule diameter in the diagnosis of cow's milk allergy
Objective To compare serum concentrations of specific IgE and mean papule diameters induced in the immediate skin reactivity test with cow's milk and its fractions with results of the oral challenge test, and to establis...