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Síndrome del cromosoma X frágil. I. Una idea general sobre su mecanismo genético

Published online by Cambridge University Press:  12 May 2020

B. Barbe ,
P. Franke ,
W. Maier  and
M. Leboyer
B. Barbe
Affiliation:
CNRS, URA 1957, Hospital Pitié-Salpêtrière, París Servicio de Psiquiatría Adultos, Prof. J. F. Allilaire, Hospital Pitié-Salpêtrière, París, Francia
P. Franke
Affiliation:
Departamento de Psiquiatría, Universidad de Bonn, Bonn, Alemania
W. Maier
Affiliation:
Departamento de Psiquiatría, Universidad de Bonn, Bonn, Alemania
M. Leboyer
Affiliation:
CNRS, URA 1957, Hospital Pitié-Salpêtrière, París Servicio de Psiquiatría Adultos, Prof. J. F. Allilaire, Hospital Pitié-Salpêtrière, París, Francia
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Resumen

En la última década se ha acumulado un gran conjunto de publicaciones con respecto al síndrome del cromosoma X frágil, la causa más común de retraso mental vinculado al cromosoma X. El primer artículo de esta revisión resume los mecanismos genéticos y propiedades de biología molecular (por ejemplo, las repeticiones de tripletes de DNA inestables) peculiares que se han caracterizado desde la detección del gen FMR-1 en 1991. Sin embargo, la pregunta más importante con respecto a la función del gen FMR-1 es todavía una cuestión no resuelta y es preciso investigarla en el futuro. El segundo artículo de esta revisión se dirige al cuadro clínico, el funcionamiento neuropsicológico y las características psicopatológicas de los portadores de la premutación y la mutación completa.

Keywords

síndrome del cromosoma X frágilrepeticiones de tripletes de DNA inestablesanticipaciónFMR-1neuropsicologíapsicopatología
Type
Artículo original
Information
European Psychiatry (Ed. Española) , Volume 4 , Issue 2 , March 1997 , pp. 98 - 104
Copyright
Copyright © European Psychiatric Association 1997

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References

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