{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:50:53Z","timestamp":1781110253277,"version":"3.54.1"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"7","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1989,4]]},"abstract":"<jats:p>Human Y(+) XX maleness has been shown to result from an abnormal terminal Xp-Yp interchange that can occur during paternal meiosis. To test whether human XY females are produced by the same mechanism, we followed the inheritance of paternal pseudoautosomal loci and Xp22.3-specific loci in two XY female patients. Y-specific sequences and the whole pseudoautosomal region of the Y chromosome of their fathers were absent in these patients. However, the entire pseudoautosomal region and the X-specific part of Xp22.3 distal to the STS locus had been inherited from the X chromosome of the respective father. This Xp transfer to Yp was established by in situ hybridization experiments showing an Xp22.3-specific locus on Yp in both cases. Such results demonstrate that an abnormal and terminal X-Y interchange generated the rearranged Y chromosome of these two XY females; they appear to be the true countertype of Y(+) XX males. In these patients, who also display some Turner stigmata, the Y gene(s) involved in this phenotype is (are) localized to interval 1 or 2. If the loss of such gene(s) affects fetal viability, their proximity to TDF would account for the underrepresentation of interchange 46,XY females compared with Y(+) XX males.<\/jats:p>","DOI":"10.1073\/pnas.86.7.2296","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T07:15:35Z","timestamp":1149059735000},"page":"2296-2300","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":38,"title":["Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females."],"prefix":"10.1073","volume":"86","author":[{"given":"J","family":"Levilliers","sequence":"first","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U163, Centre National de la Recherche Scientifique UA 271, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Quack","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U163, Centre National de la Recherche Scientifique UA 271, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Weissenbach","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U163, Centre National de la Recherche Scientifique UA 271, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Petit","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U163, Centre National de la Recherche Scientifique UA 271, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1989,4]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.86.7.2296","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T12:54:27Z","timestamp":1649854467000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.86.7.2296"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,4]]},"references-count":0,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1989,4]]}},"alternative-id":["10.1073\/pnas.86.7.2296"],"URL":"https:\/\/doi.org\/10.1073\/pnas.86.7.2296","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,4]]},"assertion":[{"value":"1989-04-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}