{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:33:27Z","timestamp":1745469207733,"version":"3.40.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"2-3","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"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":[[2015]]},"abstract":"<jats:p>Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving 3 or more cytogenetic break events on 2 or more different chromosomes. Here, we report a 7-year-old girl referred to our unit because of mild dysmorphic facial features, mild learning difficulties together with very mild mental retardation. Standard cytogenetic banding analysis revealed a de novo CCR involving chromosomes 1, 2 and 18. Further molecular investigation with aCGH revealed a cryptic interstitial deletion of 2.7 Mb in 18q22.1, which does not elicit a significant clinical phenotype. FISH was performed to confirm both molecular and cytogenetic results.<\/jats:p>","DOI":"10.1159\/000442583","type":"journal-article","created":{"date-parts":[[2015,12,17]],"date-time":"2015-12-17T22:11:10Z","timestamp":1450390270000},"page":"118-123","source":"Crossref","is-referenced-by-count":1,"title":["Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties"],"prefix":"10.1159","volume":"147","author":[{"given":"Maria","family":"Kontodiou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Daskalakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annalisa","family":"Vetro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassilis","family":"Paspaliaris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Papaioannou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Themistoklis","family":"Dagklis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioannis","family":"Tsakiridis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Ziegler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loretta","family":"Thomaidis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioannis","family":"Papoulidis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanouil","family":"Manolakos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,12,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.2.162"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1364-6"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052787"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31850"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001190"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8417-1-4"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000353302"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000327"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32900"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159\/000064043"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M513373200"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35220"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-1-24"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-47"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.4274\/Jcrpe.1183"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159\/000438812"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2012.06.020"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2009.124"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1159\/000353118"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33341"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/442583","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/442583","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/442583","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:10:34Z","timestamp":1745431834000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000442583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":20,"journal-issue":{"issue":"2-3","published-online":{"date-parts":[[2016,3,1]]},"published-print":{"date-parts":[[2016,3,17]]}},"URL":"https:\/\/doi.org\/10.1159\/000442583","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2015]]}}}