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Síndrome del cromosoma X frágil. II. correlatos cognitivos y conductuales de las mutaciones del gen FMR-1

Published online by Cambridge University Press:  12 May 2020

P. Franke ,
B. Barbe ,
M. Leboyer  and
W. Maier
P. Franke
Affiliation:
Departamento de Psiquiatría, Universidad de Bonn, Alemania
B. Barbe
Affiliation:
Groupe Hospitalie Pitié-Salpétriére, París, Francia
M. Leboyer
Affiliation:
Groupe Hospitalie Pitié-Salpétriére, París, Francia
W. Maier
Affiliation:
Departamento de Psiquiatría, Universidad de Bonn, Alemania
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Extract

El síndrome del cromosoma X frágil (o síndrome de Martin Bell) se hereda como una condición genética dominante vinculada al cromosoma X de retraso mental con penetrancia incompleta: 79% para varones y 35% para mujeres (Sherman et al,1985).

A diferencia de otras condiciones vinculadas al cromosoma X (por ejemplo, la acromatopsia ligada a él), el síndrome del cromosoma X frágil noafecta sólo a los individuos varones, sino también a las mujeres portadoras de la anomalía genética. En realidad, datos recientes con respecto al funcionamiento cognitivo indican la existencia de un amplio continuo que va desde formas graves de retraso mental, lo mismo que diversos grados de reducción de las capacidades intelectuales, hasta disfunciones neuropsicológicas selectivas circunscritas en varones y mujeres, aunque típicamente los varones están más afectados que las mujeres.

Type
Artículo original
Information
European Psychiatry (Ed. Española) , Volume 4 , Issue 3 , April 1997 , pp. 155 - 167
Copyright
Copyright © European Psychiatric Association 1997

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References

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