Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.
César Paz-Y-MiñoVeronica YumicebaGermania MoretaRosario ParedesMónica RuizLigia OcampoArianne Llamos PanequeCatalina Ochoa PérezJuan Carlos Ruiz-CabezasJenny Álvarez VidalIdarmis Jiménez TorresRamón Vargas-VeraFernando CruzVíctor Hugo Guapi NMartha MontalvánSara Meneses ÁlvarezMaribel Garzón CastroElizabeth Lamar SeguraMaría Augusta Recalde BáezMaría Elena NaranjoNina Tambaco JijónMaría SinchePedro LicuyRamiro BurgosFabián Porras-BorjaGabriela Echeverría-GarcésAndy Pérez-VillaIsaac Armendáriz-CastilloJennyfer M García-CárdenasSantiago GuerreroPatricia Guevara-RamírezAndrés López-CortésAna Karina ZambranoPaola E LeonePublished in: Molecular genetics & genomic medicine (2019)
The Ecuadorian National Registry of Chromosome Alterations and Polymorphisms provides a baseline to better understand chromosomal abnormalities in Ecuador and therefore their clinical management and awareness. This data will guide public policy makers to promote and financially support cytogenetic and genetic testing.