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Revista Cubana de Medicina General Integral

versión impresa ISSN 0864-2125versión On-line ISSN 1561-3038

Resumen

LUGONES BOTELL, Miguel; MIYAR PIEIGA, Emilia; RAMIREZ BERMUDEZ, Marieta  y  MARTINEZ LA FUENTE, Ana M.. Fragile X syndrome. Rev Cubana Med Gen Integr [online]. 2006, vol.22, n.3. ISSN 0864-2125.

A review of fragile X syndrome as the first cause of hereditary mental retardation was made. It affects men and women, but men are more severely affected. It is stressed that in spite of being one of the most common hereditary disorders, it is not known by the population in general and most of the professionals related to health and education have partial or incomplete data of the syndrome. This abnormality is due to a genetic mutation of the DNA affecting the sexual cells (ova and spermatozoa) and other types of cells of our organism. It causes a rare mutation: a reiterated sequence of 3 letters of the DNA code, called triplet repetition . The greatest number of the symptoms of this syndrome are determined by the affectation of neurons. There were analyzed the aspects related to the mutation and the phenotype, as well as the diagnosis, where the most frequent characteristics are stressed, and the treatment, which makes emphasis on the genetic counseling to the rest of the members of the affected family and on the secondary prevention that is attained by abortion.

Palabras clave : Fragile X syndrome; inheritance; mental retardation.

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