Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies / Análise cromossômica por microarray em crianças com deficiências de desenvolvimento e anomalias congênitas
Lay-Son, Guillermo; Espinoza, Karena; Vial, Cecilia; Rivera, Juan C.; Guzmán, María L.; Repetto, Gabriela M..
J. pediatr. (Rio J.)
; 91(2): 189-195, Mar-Apr/2015. tab, graf
Artículo
en Inglés
| LILACS | ID: lil-745951
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(tm) 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. .
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