{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:03:04Z","timestamp":1790208184784,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,3,2]],"date-time":"2020-03-02T00:00:00Z","timestamp":1583107200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["17H06428"],"award-info":[{"award-number":["17H06428"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["19ek0109266h0003"],"award-info":[{"award-number":["19ek0109266h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2019A\u20101"],"award-info":[{"award-number":["2019A\u20101"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Reprod Medicine &amp; Biology"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes. Indeed, previous studies detected the 45,X\/46,XY karyotype in a few young men with spermatogenic failure. The present study aimed to clarify the frequency of cryptic mLOY in reproductive\u2010aged men with spermatogenic failure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied 198 men at ages 24\u201055\u00a0years who presented with etiology\u2010unknown non\u2010obstructive azoospermia. Prior this study, these patients underwent G\u2010banding analysis for 20 leukocytes and were found to have 46,XY karyotype. We analyzed copy numbers of chromosome Y in blood cells by using semi\u2010quantitative multiplex PCR for <jats:italic>AMELY<\/jats:italic>\/<jats:italic>AMELX<\/jats:italic>, array\u2010based comparative genomic hybridization (CGH) for the <jats:italic>AMELY<\/jats:italic> locus, and droplet digital PCR for <jats:italic>SRY<\/jats:italic>, <jats:italic>USP9Y<\/jats:italic>, and <jats:italic>UTY<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Multiplex PCR showed borderline low <jats:italic>AMELY\/AMELX<\/jats:italic> ratios in three patients. However, for the three patients, CGH excluded deletion of the <jats:italic>AMELY<\/jats:italic> locus, and droplet digital PCR suggested preserved copy numbers of all tested loci.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study highlights the rarity of leukocyte mLOY in reproductive\u2010aged men with spermatogenic failure. In addition, our data imply that standard karyotyping is sufficient to screen early onset mLOY.<\/jats:p><\/jats:sec>","DOI":"10.1002\/rmb2.12321","type":"journal-article","created":{"date-parts":[[2020,3,2]],"date-time":"2020-03-02T13:20:25Z","timestamp":1583155225000},"page":"178-181","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Copy\u2010number analysis of Y\u2010linked loci in young men with non\u2010obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y"],"prefix":"10.1002","volume":"19","author":[{"given":"Erina","family":"Suzuki","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshitomo","family":"Kobori","sequence":"additional","affiliation":[{"name":"Department of Urology Dokkyo Medical 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