{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:54:38Z","timestamp":1776128078446,"version":"3.50.1"},"reference-count":12,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"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":[[2007]]},"abstract":"<jats:p>The most frequent Y-autosome translocations involve an acrocentric autosome and they are frequently familial with neither phenotypic nor reproductive repercussion. However, different Y-autosome translocations have been related to infertility, due to abnormal pairing of the X and Y chromosomes at meiosis and an abnormal XY-body formation or by the disruption of the AZFs (Azoospermic Factor). Rare forms of Y-autosome translocations are those resulting in an unbalanced 45-chromosome karyotype that includes a dicentric Y+autosome chromosome. We describe a new case of a familial pseudodicentric 22;Y that is carried by 19 male members of a large family without phenotypic repercussion. Cytogenetic analysis, fluorescence in situ hybridisation (FISH) and subtelomeric Multiplex Ligation-dependent Probe Amplification (MLPA) assay have been performed. All male members of the family showed the karyotype 45,X,psu dic(22;Y)(p11.2;qter).ish psu dic(22;Y) (SRY+,DYZ3+,D14\/D22Z1+). In conclusion, the presence of the dicentric chromosome in the male members of the family reported does not seem to interfere with the correct progression of spermatogenesis.<\/jats:p>","DOI":"10.1159\/000100418","type":"journal-article","created":{"date-parts":[[2007,4,13]],"date-time":"2007-04-13T12:06:03Z","timestamp":1176465963000},"page":"319-323","source":"Crossref","is-referenced-by-count":13,"title":["Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion"],"prefix":"10.1159","volume":"116","author":[{"given":"C.","family":"Morales","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Soler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bruguera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Madrigal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Alsius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Obon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Margarit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2007,4,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200835"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00291700"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093%2Fhumrep%2Fdei034"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fhumrep%2F17.3.564"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320280518"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390050660"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320530204"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1023%2FA%3A1012219820317"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.38.11.802"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.7.933"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199802%2918%3A2%3C111%3A%3AAID-PD224%3E3.0.CO%3B2-2"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159%2F000094806"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/100418","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/100418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:50:37Z","timestamp":1745463037000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000100418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2007,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000100418","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007]]}}}