{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:28:33Z","timestamp":1787164113207,"version":"build-2736575974"},"reference-count":16,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"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":[[2012]]},"abstract":"<jats:p>A ring chromosome replacing a normal chromosome could involve variable structural rearrangements and mitotic instability. However, most previously reported cases lacked further genomic characterization. High-resolution oligonucleotide array comparative genomic hybridization with single-nucleotide polymorphism typing (aCGH+SNP) was used to study 2 unrelated cases with a ring chromosome 21. Case 1 had severe myopia, hypotonia, joint hypermobility, speech delay, and dysmorphic features. aCGH detected a 1.275-Mb duplication of 21q22.12\u2013q22.13 and a 6.731-Mb distal deletion at 21q22.2. Case 2 showed severe growth and developmental retardations, intractable seizures, and dysmorphic features. aCGH revealed a contiguous pattern of a 3.612- Mb deletion of 21q22.12\u2013q22.2, a 4.568-Mb duplication of 21q22.2\u2013q22.3, and a 2.243-Mb distal deletion at 21q22.3. Mitotic instability was noted in 13, 30, and 76% of in vitro cultured metaphase cells, interphase cells, and leukocyte DNA, respectively. The different phenotypes of these 2 cases are likely associated with the unique genomic structure and distinct mitotic behavior of their ring chromosome 21. These 2 cases represent a subtype of ring chromosome 21 probably involving somatic dicentric ring breakage and reunion. A cytogenomic approach is proposed for characterizing the genomic structure and mitotic instability of ring chromosome abnormalities.<\/jats:p>","DOI":"10.1159\/000336978","type":"journal-article","created":{"date-parts":[[2012,3,7]],"date-time":"2012-03-07T06:13:10Z","timestamp":1331100790000},"page":"180-187","source":"Crossref","is-referenced-by-count":16,"title":["Unique Genomic Structure and Distinct Mitotic Behavior of Ring Chromosome 21 in Two Unrelated Cases"],"prefix":"10.1159","volume":"136","author":[{"given":"H.Z.","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Seashore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2012,3,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.fertnstert.2008.01.087"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2010.080382"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1995.tb04086.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097%2F00019605-200510000-00003"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaci.2009.07.058"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10466"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30143"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2007.054007"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.33088"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00291128"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.666"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159%2F000076284"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.86.6.1914"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.32411"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159%2F000315887"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.20413"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/336978","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/336978","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:11:17Z","timestamp":1745421077000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000336978"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":16,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2012,4,1]]},"published-print":{"date-parts":[[2012,4,5]]}},"URL":"https:\/\/doi.org\/10.1159\/000336978","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}