{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T18:58:44Z","timestamp":1773341924391,"version":"3.50.1"},"reference-count":7,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[1998,1,1]],"date-time":"1998-01-01T00:00:00Z","timestamp":883612800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[1998,1,1]],"date-time":"1998-01-01T00:00:00Z","timestamp":883612800000},"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":[[1998]]},"abstract":"<jats:p>Five patients with 45,X\/46,XY mosaicism ranging from 8% to 66% of 46,XY lymphocytes in the peripheral blood were studied. Their age when chromosome studies were performed ranged from a few days to 37 yr. The phenotypic presentations were two females with gonadal dysgenesis and Turner syndrome features (cases 1 and 2), two males with ambiguous genitalia and mixed gonadal dysgenesis (cases 3 and 4), and an infertile male with an atrophic testis (case 5). Fluorescence in situ hybridization (FISH) using dual-color X and Y probes on paraffin-embedded sections of the gonads was performed to assess mosaicism. A mosaic cell line with a Y chromosome was present in the streak ovary, dysgenetic gonad, and testis. In the mixed gonadal dysgenesis cases (cases 3 and 4), the testis had a higher percentage (greater than two fold) of XY cells than the ovary had. However, the highest ratio of cells with a Y chromosome was in the atrophic testis of the infertile male (case 5). The distribution of mosaic clones in the different gonadal cell types was examined. Both females (cases 1 and 2) with dysgenetic gonads had scant ovarian stroma and nests of Leydig or hilus cells. In FISH studies, the coelomic epithelial cells were predominantly 46,XY; in comparison, the Leydig and hilus cells had a lower percentage and the ovarian stroma the least number of cells with a Y signal. A mixed gonadal dysgenesis case (case 3) possessed a right testis with an XY complement in \u223c21% of Sertoli cells and \u223c14% of Leydig cells. The infertile male had an atrophic testis with interstitial hyperplasia (case 5). His testis contained Sertoli cells but no evidence of spermatogenesis. FISH detected a Y signal in about 50\u201360% of the Sertoli and Leydig cells.<\/jats:p>","DOI":"10.1159\/000015064","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T15:43:24Z","timestamp":1050421404000},"page":"52-57","source":"Crossref","is-referenced-by-count":34,"title":["Pathogenetics of 45,X\/46,XY gonadal mosaicism"],"prefix":"10.1159","volume":"82","author":[{"given":"K.S.","family":"Reddy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Sulcova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[1998,10,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0996-62"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/346245a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-480"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<441::AID-AJMG11>3.0.CO;2-U"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/35799"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(87)90180-4"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/15064","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/15064","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:29:33Z","timestamp":1745468973000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000015064"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998]]},"references-count":7,"journal-issue":{"issue":"1-2","published-online":{"date-parts":[[1998,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000015064","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998]]}}}