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MUTACIONESOnline version

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by Marilyn Miranda Villalobos
1

Fibrosis quística: Enfermedad hereditaria causada por un cambio en un gen que produce moco espeso en pulmones y sistema digestivo.

2

Hemofilia: Trastorno causado por una modificación en un gen relacionado con la coagulación de la sangre.

3

Albinismo: Ocurre por una alteración genética en un gen relacionado con la producción de melanina.

4

Fenilcetonuria: Es causada por una mutación en un gen que impide procesar correctamente la fenilalanina.

5

Anemia falciforme: Se produce por una alteración en un gen que cambia la forma de los glóbulos rojos.

6

Síndrome de Cri du Chat: Se produce por la pérdida de una parte de un cromosoma, provocando retraso del desarrollo.

7

Síndrome de Williams: Ocurre por la eliminación de un fragmento de un cromosoma y puede afectar el aprendizaje.

8

Síndrome de DiGeorge: Es causado por la ausencia de una pequeña región cromosómica.

9

Leucemia mieloide crónica: Se relaciona con el intercambio de fragmentos entre cromosomas.

10

Síndrome de Prader-Willi: Se presenta por cambios en una región específica de un cromosoma.

11

Síndrome de Edwards: Es causado por una copia adicional del cromosoma 18.

12

Síndrome de Patau: Se debe a una copia adicional del cromosoma 13.

13

Síndrome de Turner: Ocurre cuando existe ausencia de un cromosoma sexual X.

14

Síndrome de Klinefelter: Se presenta por un cromosoma sexual adicional (XXY).

15

Síndrome de Down: Se produce por una copia extra del cromosoma 21.

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