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Resumen
En Colombia el cariotipo por bandeo es todavía la prueba inicial más usada en el estudio de pacientes con retardo mental o con anomalías congénita múltiples. Sin embargo, las técnicas moleculares, particularmente la hibridación genómica comparativa con microarrays, han permitido identiicar un número creciente de síndromes de microduplicación o microdeleción en estos pacientes, de modo que mundialmente esta es hoy en día la tecnología de elección para evaluar alteraciones del número de copias. Se realiza esta revisión de la literatura con el objetivo de brindar al personal médico información actualizada acerca de la interpretación y el papel de la hibridación genómica comparativa con microarrays como herramienta diagnóstica en retardo mental inespecíico, síndromes de microdeleción/ microduplicación y análisis cromosómico prenatal. MÉD.UIS. 2016;29(2):137-44.
Palabras clave: Hibridación Genómica Comparativa. Discapacidad intelectual. Deleción Cromosómica. Duplicación Cromosómica.Diagnóstico Prenatal.
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