Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

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dc.contributor.authorLay-Son, Guillermo
dc.contributor.authorEspinoza, Karena
dc.contributor.authorVial, Cecilia
dc.contributor.authorRivera, Juan
dc.contributor.authorGuzmán, María
dc.contributor.authorRepetto, Gabriela
dc.date.accessioned2016-05-19T14:08:12Z
dc.date.available2016-05-19T14:08:12Z
dc.date.issued2015
dc.descriptionCentro de Genética y Genómica
dc.description.abstractObjectives 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.
dc.identifier.citationLay-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.
dc.identifier.urihttp://hdl.handle.net/11447/279
dc.identifier.urihttp://dx.doi.org/10.1016/j.jped.2014.07.003
dc.language.isoen_US
dc.publisherSociedad Brasileira de Pediatria with Elsevier
dc.subjectMicroarrays
dc.subjectCongenital anomalies
dc.subjectDevelopmental disabilities
dc.subjectDiagnosis
dc.subjectCopy number variants
dc.titleChromosomal microarrays testing in children with developmental disabilities and congenital anomalies
dc.title.alternativeAnálise cromossômica por microarray em crianças com deficiências de desenvolvimento e anomalias congênitas
dc.typeArtículo

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