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...

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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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spelling 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
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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
identifier_str_mv 2049-9434 / 2049-9442 (Electrónico)
instname:Pontificia Universidad Javeriana
reponame:Repositorio Institucional - Pontificia Universidad Javeriana
repourl:https://repository.javeriana.edu.co
dc.relation.citationstartpage.spa.fl_str_mv 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
dc.rights.licence.*.fl_str_mv Atribución-NoComercial 4.0 Internacional
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http://creativecommons.org/licenses/by-nc/4.0/
http://purl.org/coar/access_right/c_abf2
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