Síndrome frágil X
Palabras clave:
ADN, ARN, mutaciónResumen
Se realiza una revisión actualizada sobre las peculiaridades clínicas fenotípicas, citogenéticas, diagnosticas y de pesquisaje del Síndrome frágil X o de Martín Bell, una de las enfermedades monogénicas mas frecuentes en el ser humano y causa más común de retraso mental ligado al cromosoma X caracterizándose clínicamente por retraso mental, macroorquidea, orejas grandes, prognatismo y lenguaje “sui géneris”. En este trastorno se observa la presencia del sitio frágil en el brazo largo del cromosoma X (Xq 27.3). El diagnóstico positivo se realiza a través de las manifestaciones clínicas, estudios moleculares, citogenéticos e inmunohistoquìmicos. El diagnóstico precoz permite brindar consejo genético a los padres y familiares.
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