An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)
Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by th...
- Autores:
-
Moreno Niño, Olga María
Paredes Brijaldo, Angela Camila
Suárez-Obando, F.
Rojas, Adriana
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2021
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/60054
- Acceso en línea:
- https://www.spandidos-publications.com/10.3892/br.2021.1450
http://hdl.handle.net/10554/60054
https://doi.org/10.3892/br.2021.1450
- Palabra clave:
- Fanconi Anemia
Congenital Anomalies
Chromosomal Instability
Genetic Counseling
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Moreno Niño, Olga MaríaParedes Brijaldo, Angela CamilaSuárez-Obando, F.Rojas, AdrianaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaPontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San IgnacioMoreno Niño, Olga MaríaSuárez-Obando, F.Rojas, Adriana2022-05-31T17:18:21Z2022-05-31T17:18:21Z2021-07-15https://www.spandidos-publications.com/10.3892/br.2021.14502049-9434 / 2049-9442 (Electrónico)http://hdl.handle.net/10554/60054https://doi.org/10.3892/br.2021.1450instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coFanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 genes involved in the FA/BRCA repair pathway in most cases. The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation‑dependent probe amplification and next‑generation sequencing. This genetic condition has variable expressiveness, which makes early diagnosis difficult in certain cases. Although early diagnosis does not currently allow for improved cure rates for this condition, it does enable healthcare professionals to perform a specific systematic follow‑up and, if indicated, a bone marrow transplantation that improves the mobility and mortality of affected individuals. The present review article is a theoretical revision of the pathophysiology, clinical manifestations and diagnosis methods intended for different specialists and general practitioners to improve the diagnosis of this condition.Q3Q2Pacientes con Anemia de Fanconihttps://orcid.org/0000-0002-0826-6191https://orcid.org/0000-0001-5439-5560https://orcid.org/0000-0001-6336-5347https://orcid.org/0000-0001-8528-4433Revista Internacional - IndexadaA1NOPDFapplication/pdfFanconi AnemiaCongenital AnomaliesChromosomal InstabilityGenetic CounselingAn update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)Artículo de revistahttp://purl.org/coar/resource_type/c_6501110Biomedical Reports153ORIGINALa0209.pdfapplication/pdf1803475http://repository.javeriana.edu.co/bitstream/10554/60054/1/a0209.pdffb0b8e37023bc0d083bbe6062e989b06MD51open accessTHUMBNAILa0209.pdf.jpga0209.pdf.jpgIM Thumbnailimage/jpeg9275http://repository.javeriana.edu.co/bitstream/10554/60054/2/a0209.pdf.jpgf63d64c133aa6763c85137b6cd2fecdaMD52open access10554/60054oai:repository.javeriana.edu.co:10554/600542023-03-14 21:28:51.45Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.co |
dc.title.none.fl_str_mv |
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review) |
title |
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review) |
spellingShingle |
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review) Fanconi Anemia Congenital Anomalies Chromosomal Instability Genetic Counseling |
title_short |
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review) |
title_full |
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review) |
title_fullStr |
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review) |
title_full_unstemmed |
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review) |
title_sort |
An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review) |
dc.creator.fl_str_mv |
Moreno Niño, Olga María Paredes Brijaldo, Angela Camila Suárez-Obando, F. Rojas, Adriana |
dc.contributor.author.none.fl_str_mv |
Moreno Niño, Olga María Paredes Brijaldo, Angela Camila Suárez-Obando, F. Rojas, Adriana |
dc.contributor.corporatename.none.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San Ignacio |
dc.contributor.javerianateacher.none.fl_str_mv |
Moreno Niño, Olga María Suárez-Obando, F. Rojas, Adriana |
dc.subject.spa.fl_str_mv |
Fanconi Anemia Congenital Anomalies Chromosomal Instability Genetic Counseling |
topic |
Fanconi Anemia Congenital Anomalies Chromosomal Instability Genetic Counseling |
description |
Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 genes involved in the FA/BRCA repair pathway in most cases. The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation‑dependent probe amplification and next‑generation sequencing. This genetic condition has variable expressiveness, which makes early diagnosis difficult in certain cases. Although early diagnosis does not currently allow for improved cure rates for this condition, it does enable healthcare professionals to perform a specific systematic follow‑up and, if indicated, a bone marrow transplantation that improves the mobility and mortality of affected individuals. The present review article is a theoretical revision of the pathophysiology, clinical manifestations and diagnosis methods intended for different specialists and general practitioners to improve the diagnosis of this condition. |
publishDate |
2021 |
dc.date.created.none.fl_str_mv |
2021-07-15 |
dc.date.accessioned.none.fl_str_mv |
2022-05-31T17:18:21Z |
dc.date.available.none.fl_str_mv |
2022-05-31T17:18:21Z |
dc.type.local.spa.fl_str_mv |
Artículo de revista |
dc.type.coar.spa.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
format |
http://purl.org/coar/resource_type/c_6501 |
dc.identifier.spa.fl_str_mv |
https://www.spandidos-publications.com/10.3892/br.2021.1450 |
dc.identifier.issn.spa.fl_str_mv |
2049-9434 / 2049-9442 (Electrónico) |
dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/60054 |
dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.3892/br.2021.1450 |
dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
dc.identifier.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
dc.identifier.repourl.spa.fl_str_mv |
repourl:https://repository.javeriana.edu.co |
url |
https://www.spandidos-publications.com/10.3892/br.2021.1450 http://hdl.handle.net/10554/60054 https://doi.org/10.3892/br.2021.1450 |
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2049-9434 / 2049-9442 (Electrónico) instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
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1 |
dc.relation.citationendpage.spa.fl_str_mv |
10 |
dc.relation.ispartofjournal.spa.fl_str_mv |
Biomedical Reports |
dc.relation.citationvolume.spa.fl_str_mv |
15 |
dc.relation.citationissue.spa.fl_str_mv |
3 |
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Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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