{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:25:25Z","timestamp":1745468725062,"version":"3.40.4"},"reference-count":22,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>We report on a novel variant of the dicentric chromosome 17;20 (dic (17;20)(p11.2;q11.2) in a patient with de novo myelodysplastic syndrome (MDS). Based on FISH and array-CGH, the variant turns out to be an insertion of chromosome 17 (17p11.2-telomere 17) into chromosome 20 with breakpoints at 20q11.22 and 20q13.33. Based on conventional chromosome analysis and G-banding patterns, the region 17p11.2-17q25 was directly inserted between 20q11.22 and 20q13.33. The breakpoint junctions occurred within &lt;i&gt;KCNJ12&lt;\/i&gt; (17p11.2), &lt;i&gt;UQCC1&lt;\/i&gt; (20q11.2), and &lt;i&gt;CDH4&lt;\/i&gt; (20q13.3), leading to 5\u2032 deletions of all the genes and positioning the 3\u2032 of &lt;i&gt;UQCC1&lt;\/i&gt; next to &lt;i&gt;KCNJ12&lt;\/i&gt; at 17p11.2 and &lt;i&gt;CDH4 &lt;\/i&gt;next to an unknown gene at 17q25-20q13.3&lt;i&gt;.&lt;\/i&gt; In addition, the centromere of chromosome 17 was not active, transforming the primary constriction to a flat band. Therefore, the novel insertion variant is a pseudo dicentric derivative chromosome with one functional centromere: 45,XX,der(17;20)del(20)(q11.22q13.33)ins(20;17)(q11.2;p11.2q25). A review of the literature of all dic(17;20) cases is presented. For the first time, we report an array-CGH characterization of such rare variant that revealed to be an insertion.<\/jats:p>","DOI":"10.1159\/000506030","type":"journal-article","created":{"date-parts":[[2020,2,4]],"date-time":"2020-02-04T22:00:31Z","timestamp":1580853631000},"page":"22-28","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Variant Rearrangement of the Rare Aberration dic(17;20)(p11.2;q11.2) Characterized by Array-CGH as an Insertion in a Patient with Myelodysplastic Syndrome of Multilineage Dysplasia (MDS-MLD)"],"prefix":"10.1159","volume":"160","author":[{"given":"Maryna A.","family":"Vazmitsel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasiliki","family":"Grammatopoulou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianhui","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline R.","family":"Batanian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,2,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3960\/jslrt.50.51"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-643544"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-4-3"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/s0165-4608(01)00563-5"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.9200"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/hon.2268"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-03-082404"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3109\/10428199709042506"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000458165"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-014-0072-9"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.15369"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20385"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20806"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/s0165-4608(02)00579-4"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159\/000205033"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10088"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2008.375"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/nrc.2016.112"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2006.04.013"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2017.5979"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/s0165-4608(99)00188-0"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2014.406"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/506030","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/506030","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:46:00Z","timestamp":1745423160000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000506030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":22,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,4,6]]},"published-print":{"date-parts":[[2020,3,31]]}},"URL":"https:\/\/doi.org\/10.1159\/000506030","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2020]]}}}