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Trisomía 13 - Overview

Nombres alternativos

Síndrome de Patau

Definición:

La trisomía 13, también conocida como el síndrome de Patau, es un trastorno genético en el cual una persona tiene tres copias de material genético del cromosoma 13, en lugar de las dos copias normales. En raras ocasiones, el material extra puede estar adherido a otro cromosoma (translocación).

Causas:

La trisomía 13 ocurre cuando aparece ADN extra del cromosoma 13 en algunas o en todas las células del cuerpo.

  • Trisomía 13: presencia de un cromosoma 13 extra (tercer cromosoma) en todas las células.
  • Mosaicismo por trisomía 13: presencia de un cromosoma 13 extra en algunas de las células.
  • Trisomía parcial: presencia de una parte de un cromosoma 13 extra en las células.

El material extra interfiere con el desarrollo normal.

La trisomía 13 se presenta en aproximadamente 1 de cada 10.000 recién nacidos y la mayoría de los casos no se transmite de padres a hijos (hereditario). En lugar de esto, los eventos que llevan a la trisomía 13 ocurren ya sea en el espermatozoide o en el óvulo que forma el feto.

  • Reviewed last on: 8/4/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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