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 |
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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 |
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dc.publisher |
Sociedad Médica de Santiago |
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dc.subject |
Fragile X syndrome |
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dc.subject |
Genetic screening |
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dc.subject |
Mental retardation |
|
dc.title |
Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial |
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dc.title.alternative |
Genetic screening to determine an etiologic diagnosis in children with mental retardation |
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dc.type |
Artículo |
|