Síndrome de Down

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Síndrome de Down

Definición:

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

Nombres alternativos:

Trisomía 21

Causas, incidencia y factores de riesgo:

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 individual más común de anomalías congénitas en los seres humanos.

Referencias:

Ferri FF. Ferri’s Clinical Advisor 2007: Instant Diagnosis and Treatment. 9th ed. St. Louis, Mo: Mosby; 2007.

ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol . 2007 Jan;109(1):217-27.

AAP Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics . 2001 Feb;107(2):442-9.

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