dc.creator | Morales Camacho, Rosario María | es |
dc.creator | Sánchez, Javier | es |
dc.creator | Marcos Luque, Irene | es |
dc.creator | Bernal, Ricardo | es |
dc.creator | Falantes, José F. | es |
dc.creator | Pérez Simón, José Antonio | es |
dc.date.accessioned | 2022-02-10T08:07:57Z | |
dc.date.available | 2022-02-10T08:07:57Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | Morales Camacho, R.M., Sánchez, J., Marcos Luque, I., Bernal, R., Falantes, J.F. y Pérez Simón, J.A. (2014). An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis. Case Reports in Genetics, 1-3. | |
dc.identifier.issn | 2090-6544 | es |
dc.identifier.uri | https://hdl.handle.net/11441/129831 | |
dc.description.abstract | Refractory anaemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organization (WHO) classification. It displays features characteristic of both myelodysplastic syndrome and myeloproliferative neoplasia plus ring sideroblasts ≥15% and marked thrombocytosis. Most patients with RARS-T show a normal karyotype. We report a 76-year-old woman diagnosed with RARS-T (76% of ring sideroblasts) with JAK2 (V617F) mutation and a load of 30-40%. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample revealed the presence of isodicentric X chromosome [(idic(X)(q13)]. Moreover, HUMARA assay showed the idic(X)(q13) as the active X chromosome. This finding was correlated with the cytochemical finding of ring sideroblasts. To our knowledge, this is the first reported case of an active isodicentric X in a woman with RARS-T. | es |
dc.format | application/pdf | es |
dc.format.extent | 3 | es |
dc.language.iso | eng | es |
dc.publisher | Hindawi | es |
dc.relation.ispartof | Case Reports in Genetics, 1-3. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Refractory anaemia | es |
dc.subject | Ring sideroblasts | es |
dc.subject | Marked thrombocytosis (RARS-T) | es |
dc.subject | World Health Organization (WHO) classification | es |
dc.subject | Myelodysplastic syndrome | es |
dc.subject | Myeloproliferative neoplasia | es |
dc.subject | HUMARA assay | es |
dc.subject | Women | es |
dc.subject | JAK2 (V617F) mutation | es |
dc.title | An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.identifier.doi | 10.1155/2014/205318 | es |
dc.journaltitle | Case Reports in Genetics | es |
dc.publication.initialPage | 1 | es |
dc.publication.endPage | 3 | es |