{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:17:56Z","timestamp":1761718676036,"version":"3.40.5"},"reference-count":9,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"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":[[2018]]},"abstract":"<jats:p>Isodicentric Y chromosome [idic(Y)] represents a relatively common subtype of Y chromosomal rearrangements in the germline; however, limited evidence supports the postzygotic occurrence of idic(Y). Here, we report a boy with hypospadias and somatically acquired idic(Y). The 3.5-year-old boy has been identified in our previous study for patients with hypospadias. In the present study, cytogenetic analysis including FISH revealed a 45,X[5]\/46,X,idic(Y)[7]\/46,XY[8] karyotype. MLPA showed a mosaic deletion involving &lt;i&gt;PPP1R12BP1&lt;\/i&gt; and &lt;i&gt;RBMY2DP&lt;\/i&gt;. The idic(Y) was likely to have been formed through aberrant recombination between P1 palindromes and subsequently underwent mosaic loss. The patient's phenotype was attributable to deletion of some Y chromosomal genes and\/or mosaic loss of chromosome Y (mLOY). The results suggest that idic(Y) can originate in postzygotic cells via palindrome-mediated crossovers. Moreover, our data indicate that somatically acquired idic(Y) can trigger mLOY, which usually appears as an aging-related phenomenon in elderly men.<\/jats:p>","DOI":"10.1159\/000488162","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T21:01:47Z","timestamp":1523048507000},"page":"122-125","source":"Crossref","is-referenced-by-count":7,"title":["Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias"],"prefix":"10.1159","volume":"154","author":[{"given":"Mami","family":"Miyado","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Muroya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Momori","family":"Katsumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuki","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Kon","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":[[2018,4,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34260"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2966"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.08.022"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2017.36"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrgentox.2012.05.004"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deu364"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.07.042"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2851"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.115"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/488162","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/488162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:50:16Z","timestamp":1745427016000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000488162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,5,22]]},"published-print":{"date-parts":[[2018,5,29]]}},"URL":"https:\/\/doi.org\/10.1159\/000488162","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2018]]}}}