{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:33:01Z","timestamp":1747193581669,"version":"3.40.5"},"reference-count":21,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T00:00:00Z","timestamp":1722211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T00:00:00Z","timestamp":1722211200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Isodicentric Y chromosomes are relatively common structural variants of the human genome. The underlying mechanism of isodicentric Y chromosomes with short arm breakpoints [idic(Yq)] remains to be clarified. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; We encountered a Japanese man with azoospermia and mild short stature. G-banding and array-based comparative genomic hybridization indicated that his karyotype was 45,X\/46,X,idic(Y)(qter\u2192p11.32::p11.32\u2192qter) with a \u223c1.8 Mb terminal deletion. Whole-genome sequencing suggested that the Y chromosome had four breakpoints in a \u223c7 kb region of the pseudoautosomal region 1 (PAR1). &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; This case was assumed to have an idic(Yq) resulting from multiple DNA double-strand breaks in PAR1. This rearrangement may have been facilitated by the PAR1-specific chromatin architecture. The clinical features of the patient can be ascribed to &lt;i&gt;SHOX&lt;\/i&gt; haploinsufficiency and the presence of a 45,X cell line, although copy-number gains of some Yq genes and the size reduction of PAR1 may also contribute to his spermatogenic failure. <\/jats:p>","DOI":"10.1159\/000540634","type":"journal-article","created":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T21:04:10Z","timestamp":1722287050000},"page":"1-6","source":"Crossref","is-referenced-by-count":0,"title":["Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1"],"prefix":"10.1159","author":[{"given":"Yasuko","family":"Ogiwara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitomo","family":"Kobori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erina","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1511-4820","authenticated-orcid":false,"given":"Atsushi","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanako","family":"Tanase-Nakao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiyoshi","family":"Osaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Iwahata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Okada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Kuroki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,7,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00214200"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00654.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-019-0465-x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000507837"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.07.042"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.11.055"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2988"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.03.021"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2021.01.004"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2013.04.018"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-022-02632-8"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159\/000531103"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2303"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/nature14493"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2327-4"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.01.037"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-019-0526-3"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1159\/000444596"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1093\/gbe\/evaa168"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.115"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20473"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/cgr\/article-pdf\/doi\/10.1159\/000540634\/4271932\/000540634.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/cgr\/article-pdf\/doi\/10.1159\/000540634\/4271932\/000540634.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:33:31Z","timestamp":1745422411000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000540634"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,29]]},"references-count":21,"URL":"https:\/\/doi.org\/10.1159\/000540634","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2024,7,29]]}}}