{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T13:02:12Z","timestamp":1776258132502,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,12,4]],"date-time":"2020-12-04T00:00:00Z","timestamp":1607040000000},"content-version":"vor","delay-in-days":338,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011789","name":"Department of Science and Technology of Jilin Province","doi-asserted-by":"publisher","award":["20200404186YY"],"award-info":[{"award-number":["20200404186YY"]}],"id":[{"id":"10.13039\/501100011789","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Translocations involving X and Y chromosomes rarely occur in humans and may affect reproductive function. We investigated an Xp:Yq unbalanced translocation with pseudoautosomal region (PAR) aberrations in a natural two\u2010generation transmission. We report the case of an azoospermic male and his fertile mother without any other abnormal clinical phenotypes, except for short stature. Cytogenetic methods, including karyotyping and fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH), revealed the translocation. Chromosomal microarray comparative genomic hybridization (array\u2010CGH) was used to investigate the regions of Xp partial deletion and Yq partial duplication. Final chromosome karyotypes in the peripheral blood of the infertile male and his mother were 46,Y,der(X)t(X;Y)(p22.33;q11.22) and 46,X,der(X)t(X;Y)(p22.33;q11.22), respectively. Short\u2010stature\u2010homeobox gene deletion was responsible for the short stature in both subjects. PAR aberrations and AZFc duplication may be a direct genetic risk factor for spermatogenesis. This report further supports the use of routine karyotype analysis, FISH\u2010based technology, and array\u2010CGH analysis to identify derivative chromosomes in a complex rearrangement.<\/jats:p>","DOI":"10.1155\/2020\/4976204","type":"journal-article","created":{"date-parts":[[2020,12,4]],"date-time":"2020-12-04T16:36:32Z","timestamp":1607099792000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two\u2010Generation Transmission"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9587-7806","authenticated-orcid":false,"given":"Yuting","family":"Jiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8345-2584","authenticated-orcid":false,"given":"Yang","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4469-3809","authenticated-orcid":false,"given":"Han","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8953-863X","authenticated-orcid":false,"given":"Hongguo","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8124-6579","authenticated-orcid":false,"given":"Meiling","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3386-7765","authenticated-orcid":false,"given":"Ruizhi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,4]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1001356"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/7372362"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1793-8"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0246"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.20.8944"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2013.03.015"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-02101-w"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.2174\/138920207780368141"},{"key":"e_1_2_8_9_2","first-page":"526","article-title":"Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal xp","volume":"51","author":"Mohandas T. 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