Resumen

LARDOEYT FERRER, Roberto et al. Preliminary results of the immunohistochemical neonatal screening for detecting the fragile X syndrome . Rev Cubana Pediatr [online]. 2004, vol.76, n.3. ISSN 0034-7531.

The Fragile X syndrome is the genetic entity that is the first cause of hereditary mental retardation characterized by a very peculiar physical and psychoneuroconductal phenotype. Innumerable studies, including the immunohistochemical techniques, have been conducted aimed at dilucidating the gene's function and the localization of the protein that it codified related to this affection. The immunohistochemical techique was used in order to detect individuals at genetical risk for presenting Fragile X syndrome by neonatal screening in 14 months. A total of 2 914 male infants were screened of whom 2 414 showed histochemical results. 10 cases tested negative protein. Their psychomotor development was exhaustively evaluated for 3 years and it was normal. The disease was not detected in any individual.

Palabras clave : Neonatal screening; Fragile X syndrome; mental retardation; immunohistochemical test; monoclonal antibodies.