{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T19:47:38Z","timestamp":1778960858734,"version":"3.51.4"},"reference-count":29,"publisher":"S. Karger AG","issue":"2-3","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"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":[[2016]]},"abstract":"<jats:p>Ring chromosomes have been described for all human chromosomes and are typically associated with physical and\/or mental abnormalities resulting from a deletion of the terminal ends of both chromosome arms. This report describes the presence of a ring chromosome 9 in a 2-year-old male child associated with developmental delay. The proband manifested a severe phenotype comprising facial dysmorphism, congenital heart defects, and seizures. The child also exhibited multiple cell lines with mosaic patterns of double rings, a dicentric ring and loss of the ring associated with mitotic instability and dynamic tissue-specific mosaicism. His karyotype was 46,XY,r(9)(p22q34)[89]\/46,XY,dic r(9; 9)(p22q34;p22q34)[6]\/45, XY,-9[4]\/47,XY,r(9),+r(9)[1]. However, the karyotypes of his parents and elder brother were normal. FISH using mBAND probe and subtelomeric probes specific for p and q arms for chromosome 9 showed no deletion in any of the regions. Chromosomal microarray analysis led to the identification of a heterozygous deletion of 15.7 Mb from 9p22.3 to 9p24.3. The probable role of the deleted genes in the manifestation of the phenotype of the proband is discussed.<\/jats:p>","DOI":"10.1159\/000445862","type":"journal-article","created":{"date-parts":[[2016,5,25]],"date-time":"2016-05-25T21:15:58Z","timestamp":1464210958000},"page":"165-173","source":"Crossref","is-referenced-by-count":9,"title":["Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature"],"prefix":"10.1159","volume":"148","author":[{"given":"Aswini","family":"Sivasankaran","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murthy K.","family":"Kanakavalli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deenadayalu","family":"Anuradha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chandra R.","family":"Samuel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lakshmi R.","family":"Kandukuri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,5,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-80"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh598"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.70"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1086\/444400"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.2478\/bjmg-2013-0005"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31961"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1017\/S0142716405050095"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2007.10.011"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-12-171"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31817e2bde"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3109\/10520296509116440"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.55.15"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.56.85"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31094"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201807"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591082"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi415"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/BF00216140"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30382"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054007"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35901"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<384::AID-AJMG3>3.0.CO;2-R"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.4238\/vol9-1gmr707"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31409"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32310"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1105"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002278"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1159\/000337323"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445862","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445862","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:02:22Z","timestamp":1745431342000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000445862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":29,"journal-issue":{"issue":"2-3","published-online":{"date-parts":[[2016,6,24]]},"published-print":{"date-parts":[[2016,6,30]]}},"URL":"https:\/\/doi.org\/10.1159\/000445862","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}