Browsing by Author "Castillo, Marcela"
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Item Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial(Sociedad Médica de Santiago, 2008) Alliende, María Angélica; Campora, Laura; Curotto, Bianca; Toro, Jessica; Valiente, Alf; Castillo, Marcela; Cortés, Fanny; Trigo, César; Alvarado, Cecilia; Silva, Manuel; Caru, MargaritaBackground: 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.Item Nuestra nueva casa(2021) Castillo, MarcelaItem Revista Confluencia Volumen 5, número 2, 2022 (Edición completa)(2022) Facultad de Medicina, Clínica Alemana de Santiago - Universidad del Desarrollo; Ronco, Ricardo; Jadue, Liliana; Pérez, Claudia; López, María Angélica; Molina, Jorge; Castillo, Marcela; Ratner, Rinat; Mayol, Mimy; Ocaranza, Danilo; Parra, María Adriana; Villarroel, Vivian; Fuentes, Daniela; Lizana, MarceloItem Revista Confluencia Volumen 6, número 1, 2023 (Edición completa)(2023) Facultad de Medicina, Clínica Alemana de Santiago - Universidad del Desarrollo; Castillo, Marcela; Jadue, Liliana; Pérez, Claudia; López, María Angélica; Molina, Jorge; Jadue, Mariana; Ratner, Rinat; Mayol, Mimy; Ocaranza, Danilo; Parra, María Adriana; Villarroel, Vivian; Fuentes, Daniela; Lizana, MarceloItem Revista Confluencia Volumen 6, número 2, 2023 (Edición completa)(2023) Castillo, Marcela; Jadue, Liliana; Pérez, Claudia; López, María Angélica; Molina, Jorge; Jadue, Mariana; Ratner, Rinat; Mayol, Mimy; Ocaranza, Danilo; Parra, María Adriana; Villarroel, Vivian; Fuentes, Daniela; Ovalle, Marcelo; Facultad de Medicina, Clínica Alemana de Santiago - Universidad del Desarrollo