{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T18:17:15Z","timestamp":1763057835005,"version":"3.40.4"},"reference-count":18,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"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":[[2014]]},"abstract":"<jats:p>We report on a patient with a 47,XXY karyotype who presents a normal female phenotype, which is an extremely rare observation worldwide. The patient is infertile. Type B ultrasound scans and other tests suggested that her ovaries had completely failed. Microsatellite DNA marker analysis revealed that the 2 X chromosomes were derived from her mother and that this abnormality was caused by non-disjunction of the maternal X chromosomes during meiosis II. Copy number variation analysis identified 2 large de novo deletions in her Y chromosome. Remarkably, one of the deleted regions includes the &lt;i&gt;SRY&lt;\/i&gt; gene locus, which might explain her female phenotype. However, the genetic mechanism of her ovarian failure remains unclear. This paper is the first report of a 47,XXY female with ovarian failure.<\/jats:p>","DOI":"10.1159\/000366170","type":"journal-article","created":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T06:57:50Z","timestamp":1410332270000},"page":"221-224","source":"Crossref","is-referenced-by-count":4,"title":["De novo Structure Variations of the Y Chromosome in a 47,XXY Female with Ovarian Failure: A Case Report"],"prefix":"10.1159","volume":"143","author":[{"given":"Bin","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengqin","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Quan","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yufei","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangyin","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Landian","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,9,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00270400"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1998.9087"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7827-1-9"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000327324"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/77033"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.6.480"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.02.052"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1242\/dev.048983"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s10508-010-9628-x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16678-6"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200578"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1126\/science.1164382"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159\/000056845"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)79762-2"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<107::AID-AJMG3>3.0.CO;2-4"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-42"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.04.018"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9326"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/366170","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/366170","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:35:59Z","timestamp":1745429759000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000366170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":18,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2014,10,1]]},"published-print":{"date-parts":[[2014,10,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000366170","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5126959","asserted-by":"subject"}]},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2014]]}}}