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2016, Número 5

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Acta Pediatr Mex 2016; 37 (5)


Genómica del síndrome de Down

Díaz-Cuéllar S, Yokoyama-Rebollar E, Del Castillo-Ruiz V

Idioma: Español
Referencias bibliográficas: 39
Paginas: 289-296
Archivo PDF: 659.59 Kb.


RESUMEN

El síndrome de Down es la cromosomopatía más común del ser humano, con una frecuencia de 1 en 650 recién nacidos vivos. Las manifestaciones clínicas son muy variables y dependen, en gran parte, de la presencia de diversos factores genéticos como mosaicismo, cambios variables en el número de copias o variantes de un solo nucleótido. La identificación de estas variantes se ha convertido en un tema central de investigación ya que es esencial para la comprensión de los mecanismos moleculares subyacentes en esta enfermedad.


REFERENCIAS (EN ESTE ARTÍCULO)

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