{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:22:43Z","timestamp":1787757763503,"version":"build-2784847793"},"reference-count":51,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1% of azoospermia or severe oligospermia. However, the underlying mechanisms of pathogenesis and etiologies are still largely unknown. Herein, we investigated apparently balanced interchromosomal structural rearrangements in six cases with azoospermia\/severe oligospermia to comprehensively identify and delineate cryptic structural rearrangements and the related copy number variants. In addition, high read-depth genome sequencing (GS) (30-fold) was performed to investigate point mutations causative of male infertility. Mate-pair GS (4-fold) revealed additional structural rearrangements and\/or copy number changes in 5 of 6 cases and detected a total of 48 rearrangements. Overall, the breakpoints caused truncations of 30 RefSeq genes, five of which were associated with spermatogenesis. Furthermore, the breakpoints disrupted 43 topological-associated domains. Direct disruptions or potential dysregulations of genes, which play potential roles in male germ cell development, apoptosis, and spermatogenesis, were found in all cases (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 6). In addition, high read-depth GS detected dual molecular findings in case MI6, involving a complex rearrangement and two point mutations in the gene\n                      <jats:italic toggle=\"yes\">DNAH1<\/jats:italic>\n                      . Overall, our study provided the molecular characteristics of apparently balanced interchromosomal structural rearrangements in patients with male infertility. We demonstrated the complexity of chromosomal structural rearrangements, potential gene disruptions\/dysregulation and single-gene mutations could be the contributing mechanisms underlie male infertility.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aja2021106","type":"journal-article","created":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T13:19:37Z","timestamp":1641561577000},"page":"248-254","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":32,"title":["Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing"],"prefix":"10.4103","volume":"24","author":[{"given":"Matthew Hoi 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