{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T18:06:02Z","timestamp":1763057162337,"version":"3.40.4"},"reference-count":5,"publisher":"S. Karger AG","issue":"1-4","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2000]]},"abstract":"<jats:p>Females with XY gonadal dysgenesis are sterile, due to degeneration of the initially present ovaries into nonfunctional streak gonads. Some of these sex-reversal cases can be attributed to mutation or deletion of the SRY gene. We now describe an SRY-deleted 47,XXY female who has one son and two daughters, and one of her daughters has the same 47,XXY karyotype. PCR and FISH analysis revealed that the mother carries a structurally altered Y chromosome that most likely resulted from an aberrant X-Y interchange between the closely related genomic regions surrounding the gene pair PRKX and PRKY on Xp22.3 and Yp11.2, respectively. As a consequence, Yp material, including SRY, has been replaced by terminal Xp sequences up to the PRKX gene. The fertility of the XXY mother can be attributed to the presence of the additional X chromosome that is missing in XY gonadal dysgenesis females. To our knowledge, this is the first human XXY female described who is fertile.\u00a0\u00a0\u00a0<\/jats:p>","DOI":"10.1159\/000056845","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T19:06:15Z","timestamp":1050433575000},"page":"204-207","source":"Crossref","is-referenced-by-count":6,"title":["An SRY-negative 47,XXY mother and daughter"],"prefix":"10.1159","volume":"91","author":[{"given":"S.","family":"R\u00f6ttger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Schiebel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Senger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Ebner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Schempp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2001,1,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90367-4"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1530\/jrf.0.0970151"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO;2-5"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)07394-7"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<107::AID-AJMG3>3.0.CO;2-4"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/56845","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/56845","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:52:16Z","timestamp":1745470336000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000056845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000]]},"references-count":5,"journal-issue":{"issue":"1-4","published-online":{"date-parts":[[2000,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000056845","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2000]]}}}