{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T06:05:37Z","timestamp":1648533937944},"reference-count":10,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>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 \u226515% 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<jats:italic>JAK2<\/jats:italic>(V617F) mutation and a load of 30\u201340%. 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.<\/jats:p>","DOI":"10.1155\/2014\/205318","type":"journal-article","created":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T21:15:10Z","timestamp":1391116510000},"page":"1-3","source":"Crossref","is-referenced-by-count":0,"title":["An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis"],"prefix":"10.1155","volume":"2014","author":[{"given":"Rosario M.","family":"Morales Camacho","sequence":"first","affiliation":[{"name":"Department of Haematology, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo, CSIC, University of Seville, 41013 Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo, CSIC, University of Seville, 41013 Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Marcos Luque","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo, CSIC, University of Seville, 41013 Seville, Spain"},{"name":"Centre of Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"Bernal","sequence":"additional","affiliation":[{"name":"Department of Haematology, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo, CSIC, University of Seville, 41013 Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose F","family":"Falantes","sequence":"additional","affiliation":[{"name":"Department of Haematology, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo, CSIC, University of Seville, 41013 Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose A","family":"P\u00e9rez-Sim\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Haematology, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo, CSIC, University of Seville, 41013 Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-008-0169-1"},{"key":"2","first-page":"58","volume-title":"Myelodisplastic\/myeloproliferative disease, unclassifiable","year":"2001"},{"key":"3","first-page":"85","volume-title":"Myelodysplastic\/myeloproliferative neoplasm, 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