Article
Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.
Molecular genetics & genomic medicine - 1 Feb 2020
Paz-Y-Miño César, Yumiceba Verónica, Moreta Germania, Paredes Rosario, Ruiz Mónica, Ocampo Ligia, Llamos Paneque Arianne, Ochoa Pérez Catalina, Ruiz-Cabezas Juan Carlos, Álvarez Vidal Jenny, Jiménez Torres Idarmis, Vargas-Vera Ramón, Cruz Fernando, Guapi N Víctor Hugo, Montalván Martha, Meneses Álvarez Sara, Garzón Castro Maribel, Lamar Segura Elizabeth, Recalde Báez María Augusta, Naranjo María Elena, Tambaco Jijón Nina, Sinche María, Licuy Pedro, Burgos Ramiro, Porras-Borja Fabián, Echeverría-Garcés Gabriela, Pérez-Villa Andy, Armendáriz-Castillo Isaac, García-Cárdenas Jennyfer M, Guerrero Santiago, Guevara-Ramírez Patricia, López-Cortés Andrés, Zambrano Ana Karina, Leone Paola E
Abstract excerpt
BACKGROUND: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador. METHODS: Cytogenetic registers from different...
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