Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
Abstract 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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-02-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1087 |
| _version_ | 1797301295092072448 |
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| author | César Paz‐y‐Miño Verónica Yumiceba Germania Moreta Rosario Paredes Mónica Ruiz Ligia Ocampo Arianne Llamos Paneque Catalina Ochoa Pérez Juan Carlos Ruiz‐Cabezas Jenny Álvarez Vidal Idarmis Jiménez Torres Ramón Vargas‐Vera Fernando Cruz Víctor Hugo Guapi N Martha Montalván Sara Meneses Álvarez Maribel Garzón Castro Elizabeth Lamar Segura María Augusta Recalde Báez María Elena Naranjo Nina Tambaco Jijón María Sinche Pedro Licuy Ramiro Burgos Fabián Porras‐Borja Gabriela Echeverría‐Garcés Andy Pérez‐Villa Isaac Armendáriz‐Castillo Jennyfer M. García‐Cárdenas Santiago Guerrero Patricia Guevara‐Ramírez Andrés López‐Cortés Ana Karina Zambrano Paola E. Leone |
| author_facet | César Paz‐y‐Miño Verónica Yumiceba Germania Moreta Rosario Paredes Mónica Ruiz Ligia Ocampo Arianne Llamos Paneque Catalina Ochoa Pérez Juan Carlos Ruiz‐Cabezas Jenny Álvarez Vidal Idarmis Jiménez Torres Ramón Vargas‐Vera Fernando Cruz Víctor Hugo Guapi N Martha Montalván Sara Meneses Álvarez Maribel Garzón Castro Elizabeth Lamar Segura María Augusta Recalde Báez María Elena Naranjo Nina Tambaco Jijón María Sinche Pedro Licuy Ramiro Burgos Fabián Porras‐Borja Gabriela Echeverría‐Garcés Andy Pérez‐Villa Isaac Armendáriz‐Castillo Jennyfer M. García‐Cárdenas Santiago Guerrero Patricia Guevara‐Ramírez Andrés López‐Cortés Ana Karina Zambrano Paola E. Leone |
| author_sort | César Paz‐y‐Miño |
| collection | DOAJ |
| description | Abstract 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 Ecuadorian provinces have been merged and analyzed to construct an open‐access national registry of chromosome alterations and polymorphisms. Results Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%). Complementary to conventional cytogenetics tests, molecular tools have allowed identification of submicroscopic alterations regions or candidate genes which can be possibly implicated in patients' symptoms and phenotypes. Conclusion 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. |
| first_indexed | 2024-03-07T23:19:30Z |
| format | Article |
| id | doaj.art-fa712656beb6407583de34aee63b8326 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:19:30Z |
| publishDate | 2020-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-fa712656beb6407583de34aee63b83262024-02-21T08:58:11ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-02-0182n/an/a10.1002/mgg3.1087Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphismsCésar Paz‐y‐Miño0Verónica Yumiceba1Germania Moreta2Rosario Paredes3Mónica Ruiz4Ligia Ocampo5Arianne Llamos Paneque6Catalina Ochoa Pérez7Juan Carlos Ruiz‐Cabezas8Jenny Álvarez Vidal9Idarmis Jiménez Torres10Ramón Vargas‐Vera11Fernando Cruz12Víctor Hugo Guapi N13Martha Montalván14Sara Meneses Álvarez15Maribel Garzón Castro16Elizabeth Lamar Segura17María Augusta Recalde Báez18María Elena Naranjo19Nina Tambaco Jijón20María Sinche21Pedro Licuy22Ramiro Burgos23Fabián Porras‐Borja24Gabriela Echeverría‐Garcés25Andy Pérez‐Villa26Isaac Armendáriz‐Castillo27Jennyfer M. García‐Cárdenas28Santiago Guerrero29Patricia Guevara‐Ramírez30Andrés López‐Cortés31Ana Karina Zambrano32Paola E. Leone33Centro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorServicio de Genética Médica, Hospital de Especialidades Quito EcuadorServicio de Genética Médica, Hospital de Especialidades Quito EcuadorCitoGen Quito EcuadorLaboratorio de Genética Génica Laboratorios Quito EcuadorServicio de Genética Médica, Hospital de Especialidades Quito EcuadorLaboratorio de Citogenética SOLCA Núcleo de Cuenca Cuenca EcuadorHospital “Dr. Juan Tanca Marengo”SOLCA Matriz Guayaquil EcuadorCentro de Diagnóstico y Estudios Biomédicos Facultad de Ciencia MédicasUniversidad de Cuenca Cuenca EcuadorHospital Gineco Obstétrico Isidro AyoraMinisterio de Salud Pública Quito EcuadorFacultad de Ciencias Médicas Universidad de Guayaquil Guayaquil EcuadorCentro de Genética Médica CEGEMEDMinisterio de Salud Pública Quito EcuadorHospital General Provincial “Luis G. Dávila”Ministerio de Salud Pública Tulcán EcuadorCentro de Investigaciones Universidad Espíritu Santo Guayaquil EcuadorHospital General Docente AmbatoMinisterio de Salud Pública Ambato EcuadorServicio de Genética Médica, Hospital de Especialidades Quito EcuadorServicio de Genética Médica, Hospital de Especialidades Quito EcuadorServicio de Genética Médica, Hospital de Especialidades Quito EcuadorServicio de Genética Médica, Hospital de Especialidades Quito EcuadorServicio de Genética Médica, Hospital de Especialidades Quito EcuadorHospital “Dr. Juan Tanca Marengo”SOLCA Matriz Guayaquil EcuadorHospital “Dr. Juan Tanca Marengo”SOLCA Matriz Guayaquil EcuadorHospital “Dr. Juan Tanca Marengo”SOLCA Matriz Guayaquil EcuadorCentro de Genética Médica CEGEMEDMinisterio de Salud Pública Quito EcuadorCentro de Genética Médica CEGEMEDMinisterio de Salud Pública Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorCentro de Investigación Genética y Genómica Facultad de Ciencias de la Salud Eugenio Espejo Universidad UTE Quito EcuadorAbstract 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 Ecuadorian provinces have been merged and analyzed to construct an open‐access national registry of chromosome alterations and polymorphisms. Results Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%). Complementary to conventional cytogenetics tests, molecular tools have allowed identification of submicroscopic alterations regions or candidate genes which can be possibly implicated in patients' symptoms and phenotypes. Conclusion 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.https://doi.org/10.1002/mgg3.1087chromosome alterationschromosome polymorphismscytogeneticsgenetic testing |
| spellingShingle | César Paz‐y‐Miño Verónica Yumiceba Germania Moreta Rosario Paredes Mónica Ruiz Ligia Ocampo Arianne Llamos Paneque Catalina Ochoa Pérez Juan Carlos Ruiz‐Cabezas Jenny Álvarez Vidal Idarmis Jiménez Torres Ramón Vargas‐Vera Fernando Cruz Víctor Hugo Guapi N Martha Montalván Sara Meneses Álvarez Maribel Garzón Castro Elizabeth Lamar Segura María Augusta Recalde Báez María Elena Naranjo Nina Tambaco Jijón María Sinche Pedro Licuy Ramiro Burgos Fabián Porras‐Borja Gabriela Echeverría‐Garcés Andy Pérez‐Villa Isaac Armendáriz‐Castillo Jennyfer M. García‐Cárdenas Santiago Guerrero Patricia Guevara‐Ramírez Andrés López‐Cortés Ana Karina Zambrano Paola E. Leone Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms Molecular Genetics & Genomic Medicine chromosome alterations chromosome polymorphisms cytogenetics genetic testing |
| title | Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms |
| title_full | Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms |
| title_fullStr | Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms |
| title_full_unstemmed | Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms |
| title_short | Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms |
| title_sort | multi institutional experience of genetic diagnosis in ecuador national registry of chromosome alterations and polymorphisms |
| topic | chromosome alterations chromosome polymorphisms cytogenetics genetic testing |
| url | https://doi.org/10.1002/mgg3.1087 |
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