{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T16:19:10Z","timestamp":1758125950363,"version":"3.40.4"},"reference-count":11,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"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":[[2005]]},"abstract":"<jats:p>Small supernumerary marker chromosomes (sSMC) are small additional chromosomes characterizable for their origin only by molecular cytogenetic approaches. sSMC have been reported previously in four types of syndromes associated with chromosomal imbalances: in \u223c150 cases with Turner syndrome, 26 cases with Down syndrome and only one case each with Klinefelter syndrome and \u201cTriple-X\u201d-syndrome. Here we report the second case with an sSMC detected in addition to a Klinefelter karyotype. Molecular cytogenetics applying centromere-specific multicolor FISH (cenM-FISH) and a specific subcentromere-specific (subcenM-FISH) probe set characterized the sSMC as a dic(9)(:p12\u2192q11.1::q11.1\u2192 p11.1:). The reported patient was described with hypogonadism, gynaecomastia plus a bronchial carcinoma. The patient\u2019s clinical features are discussed in connection with other Klinefelter cases and possible consequences of presence of the sSMC(9). Furthermore, a suggestion is made for the mode of sSMC-formation in this case. \u00a0\u00a0\u00a0<\/jats:p>","DOI":"10.1159\/000086390","type":"journal-article","created":{"date-parts":[[2005,8,11]],"date-time":"2005-08-11T13:30:46Z","timestamp":1123767046000},"page":"179-181","source":"Crossref","is-referenced-by-count":3,"title":["Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient"],"prefix":"10.1159","volume":"111","author":[{"given":"T.","family":"Liehr","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Mrasek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Starke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Claussen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Schreiber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2005,8,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1146%3E3.0.CO%3B2-W"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159%2F000074163"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.31.8.632"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159%2F000079572"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.2174%2F1389202043349354"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2FBF01213092"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1997.tb02564.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390100459"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200889"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-003-1016-3"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.20682"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/86390","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/86390","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:11:28Z","timestamp":1745464288000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000086390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2005,8,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000086390","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2005]]}}}