Abstract

HERNANDEZ GARCIA, Iván; LANTIGUA CRUZ, Araceli  and  HERNANDEZ PEREZ, Yadira. Clinical and molecular characterization of individuals with fragile X syndrome detected by immunohistochemical analysis . Rev Cubana Pediatr [online]. 2004, vol.76, n.3. ISSN 0034-7531.

50 males with mental retardation and/or autism of unknown etiology were studied aimed at detecting individuals affected with the Fragile X syndrome by the immunohistochemical analysis and at characterizing them from the clinical and molecular point of view. Among the screneed subjects, 3 individuals with low expression of the protein related to the syndrome were detected. Molecular characterization was performed in these cases. The immunohistochemical and molecular correlation was positive in 2 of them. The non correlation of the third suggests that it may be a punctual mutation or a deletion of the gene connected with the disease. In another patient with the neuropsychological and physical phenotype characteristic of the disease, it was observed an average normal low expression that led to the indication of the molecular characterization, which proved to be positive. The genetic and physiopathological mechanisms that could explain the presence of the protein in the analyzed cells are discussed.

Keywords : Fragile X syndrome; immunohistochemical analysis.