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Revista médica de Chile

versión impresa ISSN 0034-9887

Resumen

ALLIENDE, M Angélica et al. Genetic screening to determine an etiologic diagnosis in children with mental retardation. Rev. méd. Chile [online]. 2008, vol.136, n.12, pp. 1542-1551. ISSN 0034-9887.  http://dx.doi.org/10.4067/S0034-98872008001200006.

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.

Palabras clave : Fragile X syndrome; Genetic screening; Mental retardation.

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