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

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dc.contributor.author Alliende, María Angélica
dc.contributor.author Campora, Laura
dc.contributor.author Curotto, Bianca
dc.contributor.author Toro, Jessica
dc.contributor.author Valiente, Alf
dc.contributor.author Castillo, Marcela
dc.contributor.author Cortés, Fanny
dc.contributor.author Trigo, César
dc.contributor.author Alvarado, Cecilia
dc.contributor.author Silva, Manuel
dc.contributor.author Caru, Margarita
dc.date.accessioned 2015-01-12T14:45:34Z
dc.date.available 2015-01-12T14:45:34Z
dc.date.issued 2008
dc.identifier.citation Revista Médica de Chile, Diciembre 2008, vol. 136, n° 12, p. 1542-1551
dc.identifier.uri http://hdl.handle.net/11447/33
dc.identifier.uri http://dx.doi.org/10.4067/S0034-98872008001200006
dc.description Centro de Genética y Genómica
dc.description.abstract 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 areas 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.
dc.language.iso spa
dc.publisher Sociedad Médica de Santiago
dc.subject Fragile X syndrome
dc.subject Genetic screening
dc.subject Mental retardation
dc.title Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
dc.title.alternative Genetic screening to determine an etiologic diagnosis in children with mental retardation
dc.type Artículo


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