{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:36:59Z","timestamp":1777394219296,"version":"3.51.4"},"reference-count":29,"publisher":"S. Karger AG","issue":"2","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":"A de novo aberrant karyotype with 47 chromosomes including 2 different-sized markers was identified during prenatal diagnosis. Fluorescence in situ hybridization (FISH) with a Y painting probe tagged both marker chromosomes which were supposed to be isochromosomes of the short and the long arm, respectively. A normal boy was born in time who shows normal physical and mental development. To characterize both Y markers in detail, we postnatally FISH-mapped a panel of Y chromosomal probes including <i>SHOX<\/i> (PAR1), <i>TSPY<\/i>, <i>DYZ3<\/i> (Y centromere), <i>UTY<\/i>, <i>XKRY<\/i>, <i>CDY<\/i>, <i>RBMY<\/i>, <i>DAZ<\/i>, <i>DYZ1<\/i> (Yq12 heterochromatin), <i>SYBL1<\/i> (PAR2), and the human telomeric sequence (TTAGGG)<sub>n<\/sub>. The smaller Y marker turned out to be an isochromosome containing an inverted duplication of the entire short arm, the original Y centromere, and parts of the proximal long arm, including AZFa. The bigger Y marker was an isochromosome of the rest of the Y long arm. Despite a clearly visible primary constriction within one of the DAPI- and <i>DYZ1<\/i>-positive heterochromatic regions, hybridization of <i>DYZ3<\/i> detected no Y-specific alphoid sequences in that constriction. Because of its stable mitotic distribution, a de novo formation of a neocentromere has to be assumed.<\/jats:p>","DOI":"10.1159\/000335705","type":"journal-article","created":{"date-parts":[[2012,1,25]],"date-time":"2012-01-25T09:31:16Z","timestamp":1327483876000},"page":"157-162","source":"Crossref","is-referenced-by-count":8,"title":["47,X,idic(Y),inv dup(Y): A Non-Mosaic Case of a Phenotypically Normal Boy with Two Different Y Isochromosomes and Neocentromere Formation"],"prefix":"10.1159","volume":"136","author":[{"given":"J.J.","family":"Pasantes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Wimmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Knebel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"M\u00fcnch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Kelbova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Junge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Kieback","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"K\u00fcpferling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Schempp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,1,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0308637101"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007%2FBF02267065"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2FS1534-5807%2801%2900028-4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.18.3.161"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00279046"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2006.00654.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1987.tb02783.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00194221"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320530204"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159%2F000138903"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1023%2FA%3A1012219820317"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.cell.2009.07.042"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00194222"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2007.11.009"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0597-54"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002%2Fgcc.2870040109"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1023%2FA%3A1021556108571"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature01723"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00713047"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1304"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390050286"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038%2F3024"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1101%2Fgr.6.4.235"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00291876"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00214200"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1086%2F302380"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.7.933"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1002%2F1096-8628%2820010722%29102%3A1%3C86%3A%3AAID-AJMG1390%3E3.0.CO%3B2-T"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00412-010-0278-5"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/335705","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/335705","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:59:57Z","timestamp":1745434797000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000335705"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":29,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2012,3,1]]},"published-print":{"date-parts":[[2012,3,5]]}},"URL":"https:\/\/doi.org\/10.1159\/000335705","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]]}}}