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Síndrome de Down - Overview

Nombres alternativos

Trisomía 21

Definición:

Es un trastorno genético en el cual una persona tiene 47 cromosomas en lugar de los 46 usuales.

Causas:

En la mayoría de los casos, el síndrome de Down ocurre cuando hay una copia extra del cromosoma 21. Esta forma de síndrome de Down se denomina trisomía 21. El cromosoma extra causa problemas con la forma como se desarrolla el cuerpo y el cerebro.

El síndrome de Down es la causa única más común de anomalías congénitas en los seres humanos.

  • Reviewed last on: 10/18/2010
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007 Jan;109(1):217-227.

AAP Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2001 Feb;107(2):442-449.

Davidson MA. Primary care for children and adolescents with Down syndrome. Pediatr Clin North Am. 2008;55:1099-1111.

Simpson JL, Otaño L. Prenatal genetic diagnosis. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics:Normal and Problem Pregnancies. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2007:chap 7.

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