Méndez-Rosado LA, Galarza-Brito JE

Idioma: Español
Referencias bibliográficas: 36
Paginas: 8-14
Archivo PDF: 284.78 Kb.

RESUMEN

En el genoma humano aparecen variaciones que aparentemente no implican cambios deletéreos, y que se diagnostican mediante técnicas de citogenética convencional o molecular. Sin embargo, está demostrado que en ocasiones estas variaciones son causa de serias alteraciones fenotípicas. El presente trabajo tiene como objetivo realizar una actualización sobre los avances en el diagnóstico de las variaciones genómicas y evaluar los resultados que pueden explicar la correlación entre el fenotipo anormal del paciente con el genotipo aparentemente balanceado en una aberración estructural o con variaciones en el número de copias que aparecen de novo en los individuos. Se realizó una revisión del tema a través de la búsqueda de artículos científicos en Pubmed y Research Gate, seleccionando los disponibles a texto completo y con información novedosa. Dentro de las aberraciones estructurales balanceadas se describen las alteraciones que involucran los puntos de ruptura implícitos en este tipo de reordenamiento. Se refiere el efecto adverso que pueden tener las variaciones en el número de copias en el genoma y su diferente ubicación en el mismo.

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