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

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dc.contributor.authorAlliende, María Angélica
dc.contributor.authorCampora, Laura
dc.contributor.authorCurotto, Bianca
dc.contributor.authorToro, Jessica
dc.contributor.authorValiente, Alf
dc.contributor.authorCastillo, Marcela
dc.contributor.authorCortés, Fanny
dc.contributor.authorTrigo, César
dc.contributor.authorAlvarado, Cecilia
dc.contributor.authorSilva, Manuel
dc.contributor.authorCaru, Margarita
dc.date.accessioned2015-01-12T14:45:34Z
dc.date.available2015-01-12T14:45:34Z
dc.date.issued2008
dc.descriptionCentro de Genética y Genómica
dc.description.abstractBackground: 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.identifier.citationRevista Médica de Chile, Diciembre 2008, vol. 136, n° 12, p. 1542-1551
dc.identifier.urihttp://hdl.handle.net/11447/33
dc.identifier.urihttp://dx.doi.org/10.4067/S0034-98872008001200006
dc.language.isospa
dc.publisherSociedad Médica de Santiago
dc.subjectFragile X syndrome
dc.subjectGenetic screening
dc.subjectMental retardation
dc.titleBúsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
dc.title.alternativeGenetic screening to determine an etiologic diagnosis in children with mental retardation
dc.typeArtículo

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