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Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome

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dc.contributor.authorManotas, Maria
dc.contributor.authorGarcia-Acero, Mary
dc.contributor.authorGonzález, Daniel M.
dc.contributor.authorMoreno Niño, Olga María
dc.contributor.authorSuárez-Obando, F.
dc.contributor.authorCespedes Salazar, Camila
dc.contributor.authorForero Ronderos, Catalina
dc.contributor.authorPerez Niño, Jaime
dc.contributor.authorFernandez, Nicolas
dc.contributor.authorRojas, Adriana
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Pediatría
dc.contributor.javerianateacherPerez Niño, Jaime
dc.contributor.javerianateacherFernandez, Nicolas
dc.contributor.javerianateacherMoreno Niño, Olga María
dc.contributor.javerianateacherSuárez-Obando, F.
dc.contributor.javerianateacherCespedes Salazar, Camila
dc.contributor.javerianateacherRojas, Adriana
dc.coverage.cityBogotá (Colombia)spa
dc.coverage.spatialColombiaspa
dc.date.accessioned2021-05-12T18:23:14Z
dc.date.available2021-05-12T18:23:14Z
dc.date.created2021-03-05
dc.description.abstractenglishIsodicentric 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.spa
dc.description.comunidadPacientes con Trastornos del desarrollo sexual
dc.description.indexingRevista Internacional - Indexadaspa
dc.description.orcidhttps://orcid.org/0000-0002-4900-4948
dc.description.orcidhttps://orcid.org/0000-0002-7109-3342
dc.description.orcidhttps://orcid.org/0000-0002-0826-6191
dc.description.orcidhttps://orcid.org/0000-0001-6336-5347
dc.description.orcidhttps://orcid.org/0000-0002-7856-7213
dc.description.orcidhttps://orcid.org/0000-0002-2231-4321
dc.description.orcidhttps://orcid.org/0000-0002-9675-5963
dc.description.orcidhttps://orcid.org/0000-0001-8528-4433
dc.description.publindexA2
dc.description.quartilescopusQ3spa
dc.description.quartilewosQ4
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.identifierhttps://www.karger.com/Article/Abstract/512803spa
dc.identifier.doihttps://doi.org/10.1159/000512803spa
dc.identifier.instnameinstname:Pontificia Universidad Javerianaspa
dc.identifier.issn1661-5425 / 1661-5433 (Electrónico)spa
dc.identifier.reponamereponame:Repositorio Institucional - Pontificia Universidad Javerianaspa
dc.identifier.repourlrepourl:https://repository.javeriana.edu.cospa
dc.identifier.urihttp://hdl.handle.net/10554/53840
dc.language.isoengspa
dc.relation.citationendpage20spa
dc.relation.citationissue1-6
dc.relation.citationstartpage12spa
dc.relation.citationvolume14
dc.relation.ispartofjournalSexual Developmentspa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2spa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subject.keywordCytogeneticspa
dc.subject.keywordIsodicentricspa
dc.subject.keywordSexual developmentspa
dc.subject.keywordY chromosomespa
dc.titleClinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosomespa
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1spa
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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