{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T15:56:37Z","timestamp":1754150197083,"version":"3.41.2"},"reference-count":19,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"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>Introduction: Kallmann syndrome (KS) is a rare congenital disorder characterized by hypogonadotropic hypogonadism and anosmia\/hyposmia. KS primarily results from nucleotide substitutions and copy number variations in known causative genes. Only one balanced X chromosomal inversion involving ANOS1 has been identified in a patient. Case Presentation: We encountered a boy with typical clinical features of KS. G-banding showed a 46,Y,inv(X)(pter\u2192p22.32::q21.1\u2192p22.32::q21.1\u2192qter) karyotype, and whole genome sequencing and array-based comparative genomic hybridization detected a copy number neutral pericentric inversion involving a 72-Mb region. The breakpoints were mapped to ANOS1 intron 3 and an intergenic region at Xq21.1. The two breakpoints shared a 3-bp complementary sequence but were not associated with repetitive elements or nucleotide insertions at the fusion junction. Conclusion: These results indicate that KS-causative inversions on the X chromosome can arise from replication-based errors. Furthermore, our data provide evidence that balanced X chromosomal inversions constitute a rare monogenic cause of KS. <\/jats:p>","DOI":"10.1159\/000545695","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T12:01:24Z","timestamp":1745323284000},"page":"93-98","source":"Crossref","is-referenced-by-count":0,"title":["Kallmann Syndrome due to Balanced X Chromosomal Pericentric Inversion Disrupting ANOS1"],"prefix":"10.1159","volume":"165","author":[{"given":"Michihiko","family":"Aramaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Hamajima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erina","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6254-9216","authenticated-orcid":false,"given":"Keiko","family":"Matsubara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90193-3"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/nature24265"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02199-3"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/andr.12432"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159\/000507837"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1530\/EC-22-0413"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.4.7420"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2017.S010"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24106"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac300"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.05.012"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.206"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02148-0"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac615"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222312713"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1186\/gm132"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02147-1"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2005.08.044"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deae057"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000545695","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000545695","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T16:02:59Z","timestamp":1752854579000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000545695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,22]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,7,18]]},"published-print":{"date-parts":[[2025,7,23]]}},"URL":"https:\/\/doi.org\/10.1159\/000545695","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.28742906","asserted-by":"subject"}]},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2025,4,22]]}}}