{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T14:09:25Z","timestamp":1769090965350,"version":"3.49.0"},"reference-count":22,"publisher":"S. Karger AG","issue":"4","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>Structural abnormalities include various types of translocations, inversions, deletions, duplications and isochromosomes. Structural abnormalities of the Y chromosome are estimated to affect less than 1% of the newborn male population and are particularly hazardous for male reproductive function. The objective of this study was to characterize a group of patients with structural abnormalities of the Y chromosome. All patients who visited our laboratory between 2007 and 2010 underwent cytogenetic investigations. Among these, we detected 26 patients with structural abnormalities of the Y chromosome. To confirm the structural Y chromosome alterations, we used special bandings, FISH and multiplex PCR to detect Y chromosome microdeletions. Of the 26 patients presented here, 11 had an isodicentric Y chromosome, 7 had an inversion, 3 had a translocation, 2 had a derivative, 2 had a Yqs and 1 had a deletion. Sixteen were diagnosed with azoospermia, 8 as normal fertile males and 1 as a man who was unable to donate semen due to mental retardation. One of the patients having 45,X\/46,X,idic(Y) was reported to be phenotypically female with primary amenorrhea and without uterus. Deletions of the AZFbc region were correlated with the sperm concentration (p &lt; 0.05), but no correlation with the levels of FSH, LH, testosterone, prolactin and estradiol were found. The present report shows that the precise identification of structural Y chromosome aberrations may be clinically important for genetic counseling and assisted reproductive technology treatment.<\/jats:p>","DOI":"10.1159\/000338413","type":"journal-article","created":{"date-parts":[[2012,6,8]],"date-time":"2012-06-08T12:32:50Z","timestamp":1339158770000},"page":"270-277","source":"Crossref","is-referenced-by-count":40,"title":["Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations"],"prefix":"10.1159","volume":"136","author":[{"given":"J.-W.","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.-Y.","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.-M.","family":"Ryu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.-E.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.-Y.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.-Y.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.-S.","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.-S.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.-T.","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,6,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00204168"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30027"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.2164%2Fjandrol.108.006353"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390050660"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159%2F000094805"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00280488"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fhumrep%2F16.1.82"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320530204"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159%2F000138903"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093%2Fhumrep%2F15.7.1431"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.fertnstert.2004.08.026"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819970516%2970%3A2%3C134%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00197403"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.33105"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1976.tb01621.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159%2F000118747"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00270562"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038%2F346240a0"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature01722"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00214200"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.7.933"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.4103%2F0971-6866.27788"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/338413","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/338413","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:19:37Z","timestamp":1745432377000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000338413"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":22,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2012,6,1]]},"published-print":{"date-parts":[[2012,6,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000338413","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]]}}}