title: Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.affiliation: Center for Human Genetics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; Hospital Padre Hurtado, Santiago, Chile. Electronic address: glayson@udd.cl.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Lay-Son
authors.affiliation: Center for Human Genetics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: Karena
authors.initials: K
authors.lastname: Espinoza
authors.affiliation: Center for Human Genetics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Vial
authors.affiliation: Center for Human Genetics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: Juan C
authors.initials: JC
authors.lastname: Rivera
authors.affiliation: Center for Human Genetics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; Hospital Padre Hurtado, Santiago, Chile.
authors.forename: María L
authors.initials: ML
authors.lastname: Guzmán
authors.affiliation: Center for Human Genetics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; Hospital Padre Hurtado, Santiago, Chile.
authors.forename: Gabriela M
authors.initials: GM
authors.lastname: Repetto
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002677:Chile; D002869:Chromosome Aberrations; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D055815:Young Adult
keywords: Anomalias congênitas; Atraso de desenvolvimento; Congenital anomalies; Copy number variants; Developmental disabilities; Diagnosis; Diagnóstico; Microarrays; Variante do número de cópia