Show simple item record

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

Authordc.contributor.authorAlliende Rodríguez, María Angélica 
Authordc.contributor.authorCámpora, Laura es_CL
Authordc.contributor.authorCurotto, Bianca es_CL
Authordc.contributor.authorToro, Jessica es_CL
Authordc.contributor.authorValiente, Alf es_CL
Authordc.contributor.authorCastillo, Marcela es_CL
Authordc.contributor.authorCortés, Fanny es_CL
Authordc.contributor.authorTrigo, César es_CL
Authordc.contributor.authorAlvarado, Cecilia es_CL
Authordc.contributor.authorSilva, Manuel es_CL
Authordc.contributor.authorCarú Marambio, Margarita es_CL
Admission datedc.date.accessioned2009-07-09T16:25:48Z
Available datedc.date.available2009-07-09T16:25:48Z
Publication datedc.date.issued2008-12
Cita de ítemdc.identifier.citationREVISTA MEDICA DE CHILE, V.: 136, issue: 12, p.: 1542-1551, DEC 2008.en
Identifierdc.identifier.issn0034-9887
Identifierdc.identifier.urihttp://repositorio.uchile.cl/handle/2250/123906
Abstractdc.description.abstractMental retardation or intellectual disability affects 2% of the general population, but in 60% to 70% of cases the real cause of this 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 underlying 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 tandem 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 screeninen
Patrocinadordc.description.sponsorshipTrabajo financiado por proyecto DI-U. de Chile: MULT 04/32-2.en
Lenguagedc.language.isoesen
Publisherdc.publisherSOC MEDICA SANTIAGOen
Keywordsdc.subjectFragile X syndromeen
Títulodc.titleBúsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especialen
Document typedc.typeArtículo de revistaen


Files in this item

Icon

This item appears in the following Collection(s)

Show simple item record