{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:30:44Z","timestamp":1747193444640,"version":"3.40.5"},"reference-count":27,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"<jats:p>Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (&lt;i&gt;SRY&lt;\/i&gt;) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q11.21;q35) karyotype, who exhibited unilateral cryptorchidism, small testis, intellectual disability, and various congenital anomalies. The fusion junction of the translocation was blunt, and the breakpoint-flanking regions shared only 50% similarity. These results indicate that Y;autosome translocations can occur between 2 low-similarity sequences, probably via nonhomologous end joining. Furthermore, translocations of a Ypterq11.21 fragment to 7q35 likely result in normal or only mildly impaired male-type sexual development, along with various clinical features of 7q deletion syndrome, although their effects on adult testicular function remain to be studied.<\/jats:p>","DOI":"10.1159\/000501378","type":"journal-article","created":{"date-parts":[[2019,7,2]],"date-time":"2019-07-02T21:00:38Z","timestamp":1562101238000},"page":"115-120","source":"Crossref","is-referenced-by-count":2,"title":["Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development"],"prefix":"10.1159","volume":"158","author":[{"given":"Erika","family":"Uehara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirohito","family":"Shima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Ishiguro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eishin","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,7,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37428"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1941-9"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.carj.2016.05.007"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2007.11.065"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2007.01.097"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000335463"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20372"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0965-5"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2013.01.001"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.08.022"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.507"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.104.036939"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1101\/gad.254664.114"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2015.12.018"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2015-0427"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/pl00008350"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.ej13-0334"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.70"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.11.918"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-014-0376-z"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-013-0122-y"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038\/3828"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1985"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101008"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2015.05.010"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2490-14-70"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1016\/S0188-4409(01)00322-8"}],"container-title":["Cytogenetic 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