Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome
Q4
- Autores:
-
Manotas, Maria
Garcia-Acero, Mary
González, Daniel M.
Moreno Niño, Olga María
Suárez-Obando, F.
Cespedes Salazar, Camila
Forero Ronderos, Catalina
Perez Niño, Jaime
Fernandez, Nicolas
Rojas, Adriana
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2021
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/53840
- Acceso en línea:
- https://www.karger.com/Article/Abstract/512803
http://hdl.handle.net/10554/53840
https://doi.org/10.1159/000512803
- Palabra clave:
- Cytogenetic
Isodicentric
Sexual development
Y chromosome
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome |
| title |
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome |
| spellingShingle |
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome Cytogenetic Isodicentric Sexual development Y chromosome |
| title_short |
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome |
| title_full |
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome |
| title_fullStr |
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome |
| title_full_unstemmed |
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome |
| title_sort |
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome |
| dc.creator.fl_str_mv |
Manotas, Maria Garcia-Acero, Mary González, Daniel M. Moreno Niño, Olga María Suárez-Obando, F. Cespedes Salazar, Camila Forero Ronderos, Catalina Perez Niño, Jaime Fernandez, Nicolas Rojas, Adriana |
| dc.contributor.author.none.fl_str_mv |
Manotas, Maria Garcia-Acero, Mary González, Daniel M. Moreno Niño, Olga María Suárez-Obando, F. Cespedes Salazar, Camila Forero Ronderos, Catalina Perez Niño, Jaime Fernandez, Nicolas 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 Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Pediatría |
| dc.contributor.javerianateacher.none.fl_str_mv |
Perez Niño, Jaime Fernandez, Nicolas Moreno Niño, Olga María Suárez-Obando, F. Cespedes Salazar, Camila Rojas, Adriana |
| dc.subject.keyword.spa.fl_str_mv |
Cytogenetic Isodicentric Sexual development Y chromosome |
| topic |
Cytogenetic Isodicentric Sexual development Y chromosome |
| description |
Q4 |
| publishDate |
2021 |
| dc.date.accessioned.none.fl_str_mv |
2021-05-12T18:23:14Z |
| dc.date.available.none.fl_str_mv |
2021-05-12T18:23:14Z |
| dc.date.created.none.fl_str_mv |
2021-03-05 |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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https://www.karger.com/Article/Abstract/512803 |
| dc.identifier.issn.spa.fl_str_mv |
1661-5425 / 1661-5433 (Electrónico) |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/53840 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1159/000512803 |
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instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
| url |
https://www.karger.com/Article/Abstract/512803 http://hdl.handle.net/10554/53840 https://doi.org/10.1159/000512803 |
| identifier_str_mv |
1661-5425 / 1661-5433 (Electrónico) instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
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12 |
| dc.relation.citationendpage.spa.fl_str_mv |
20 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Sexual Development |
| dc.relation.citationvolume.none.fl_str_mv |
14 |
| dc.relation.citationissue.none.fl_str_mv |
1-6 |
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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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PDF |
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application/pdf |
| dc.coverage.spatial.spa.fl_str_mv |
Colombia |
| dc.coverage.city.spa.fl_str_mv |
Bogotá (Colombia) |
| institution |
Pontificia Universidad Javeriana |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Manotas, MariaGarcia-Acero, MaryGonzález, Daniel M.Moreno Niño, Olga MaríaSuárez-Obando, F.Cespedes Salazar, CamilaForero Ronderos, CatalinaPerez Niño, JaimeFernandez, NicolasRojas, AdrianaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaPontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. UrologíaPontificia Universidad Javeriana. Facultad de Medicina. Departamento de PediatríaPerez Niño, JaimeFernandez, NicolasMoreno Niño, Olga MaríaSuárez-Obando, F.Cespedes Salazar, CamilaRojas, AdrianaColombiaBogotá (Colombia)2021-05-12T18:23:14Z2021-05-12T18:23:14Z2021-03-05https://www.karger.com/Article/Abstract/5128031661-5425 / 1661-5433 (Electrónico)http://hdl.handle.net/10554/53840https://doi.org/10.1159/000512803instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengClinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y ChromosomeArtículo de revistahttp://purl.org/coar/resource_type/c_2df8fbb1Q4Q3Pacientes con Trastornos del desarrollo sexualIsodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.https://orcid.org/0000-0002-4900-4948https://orcid.org/0000-0002-7109-3342https://orcid.org/0000-0002-0826-6191https://orcid.org/0000-0001-6336-5347https://orcid.org/0000-0002-7856-7213https://orcid.org/0000-0002-2231-4321https://orcid.org/0000-0002-9675-5963https://orcid.org/0000-0001-8528-4433Revista Internacional - IndexadaA2CytogeneticIsodicentricSexual developmentY chromosome1220Sexual Development141-6LICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/53840/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessORIGINALidic manotas et al 2021.pdfidic manotas et al 2021.pdfArtículoapplication/pdf650703http://repository.javeriana.edu.co/bitstream/10554/53840/1/idic%20manotas%20et%20al%202021.pdf10be7f07242fd4d3e8c4dda29ca598b2MD51embargoed access|||9999-05-12THUMBNAILidic manotas et al 2021.pdf.jpgidic manotas et al 2021.pdf.jpgIM Thumbnailimage/jpeg8995http://repository.javeriana.edu.co/bitstream/10554/53840/3/idic%20manotas%20et%20al%202021.pdf.jpga7ba7f29cc57ea02a83dadf378be0159MD53open access10554/53840oai:repository.javeriana.edu.co:10554/538402023-03-13 22:11:28.814Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |