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Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial

    1. [1] Universidad de Chile

      Universidad de Chile

      Santiago, Chile

    2. [2] Universidad del Desarrollo

      Universidad del Desarrollo

      Santiago, Chile

    3. [3] Escuela Especial Nuestro Mundo
  • Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 136, Nº. 12, 2008, págs. 1542-1551
  • Idioma: español
  • Títulos paralelos:
    • Genetic screening to determine an etiologic diagnosis in children with mental retardation
  • Enlaces
  • Resumen
    • Background: Mental retardation or intellectual disability affects 2% ofthe general population, but in 60% to 70% of cases the real cause ofthis retardation is not known. An early etiologic diagnosis of intellectual disability can lead to opportunities for improved educational interventions, reinforcing weak aáreas and providing a genetic counseling to the family Aim: To search genetic diseases underíying intellectual disabilities of children attending a special education school. Material and methods: A clinical geneticist performed the history and physical examination in one hundred and three students aged between 5 and 24 years (51 males). A blood sample was obtained in 92 of them for a genetic screening that included a standard karyotype, fragile X molecular genetic testing and search for inborn errors of metabolism by tándem mass spectrometry. Results: This approach yielded an etiological diagnosis in as much as 29 patients. Three percent of them had a fragile X syndrome. Inborn errors of metabolism were not detected. Conclusions: This type of screening should be done always in children with intellectual disability to establish an etiological diagnosis.

Los metadatos del artículo han sido obtenidos de SciELO Chile

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