{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T05:55:01Z","timestamp":1757310901678,"version":"3.40.4"},"reference-count":23,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>Ring chromosomes are present in 1 in 25,000 human fetuses; 99% arise de novo while less than 1% of rings are inherited. This chromosomal rearrangement may arise through a cytogenetic mechanism involving breaks in chromosome arms and fusion of the proximal broken ends, leading to a loss of distal material. Most patient Y ring chromosomes are present in a 45,X\/46,X,r(Y) mosaic karyotype; molecular analyses of infertile men have shown that it is not rare to find r(Y) in these patients. However, the clinical spectrum in those cases with a 45,X cell line is broad and depends on the percentage of the monosomic cell line in different tissues. Y chromosome abnormalities and 45,X mosaic karyotypes are often associated with disorders of sex determination. Here, we report a male patient with hypospadias, cryptorchidism and a mosaic karyotype containing a low proportion of 45,X monosomic cells and multiple ring Y chromosomes in peripheral blood. Clinical, surgical, and molecular evidence was sufficient for a diagnosis of mixed gonadal dysgenesis. We suggest that a detailed cytogenetic and molecular analysis should be done in all males with bilateral descended testes and infertility.<\/jats:p>","DOI":"10.1159\/000228717","type":"journal-article","created":{"date-parts":[[2009,9,11]],"date-time":"2009-09-11T13:12:33Z","timestamp":1252674753000},"page":"177-182","source":"Crossref","is-referenced-by-count":6,"title":["Mix Gonadal Dysgenesis Associated with Ring Y Chromosome Mosaics in a Phenotypic Male"],"prefix":"10.1159","volume":"3","author":[{"given":"J.A.","family":"Lopez-Valdes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Nieto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Najera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Cervantes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kofman-Alfaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Queipo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,9,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093%2Fhumrep%2Fdeh598"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2FS0015-0282%2802%2904931-2"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1600-0463.2003.1110104.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2007.02859.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159%2F000094805"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C171%3A%3AAID-AJMG11%3E3.0.CO%3B2-I"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819970905%2971%3A4%3C426%3A%3AAID-AJMG10%3E3.0.CO%3B2-I"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320530204"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5201807"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00200912"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.fertnstert.2007.12.078"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30097"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320460304"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2F0014-4827%2860%2990138-5"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.83.9.2934"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2F0165-4608%2891%2990363-Y"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-002-0772-9"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30737"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2FS0046-8177%2882%2980292-X"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2007.00885.x"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2871%2990287-X"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.32358"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1542%2Fpeds.104.2.304"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/228717","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/228717","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T21:44:11Z","timestamp":1745444651000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000228717"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":23,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2009,9,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000228717","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"type":"print","value":"1661-5425"},{"type":"electronic","value":"1661-5433"}],"subject":[],"published":{"date-parts":[[2009]]}}}