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En el estudio de pacientes con trastornos del neurodesarrollo de origen inespecífico sería muy importante descartar también por otras técnicas (HGC, FISH…)  microdeleciones o microduplicaciones que muchas veces pueden ser no detectadas por estudios convencionales y evaluar además las regiones subteloméricas para descartar reordenamientos crípticos subteloméricos, que en la actualidad son muy relacionadas con los trastornos del neurodesarrollo y la discapacidad intelectual.

Gracias por su presentación.

Re: Otros estudios necesarios (1 respuesta)
Dr C Luis Alberto Méndez Rosado National center of Medical Genetics (2019-11-06)
Re: Otros estudios necesarios
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