{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:09:44Z","timestamp":1745554184931,"version":"3.40.4"},"reference-count":25,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2005,11,3]],"date-time":"2005-11-03T00:00:00Z","timestamp":1130976000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,11,3]],"date-time":"2005-11-03T00:00:00Z","timestamp":1130976000000},"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":[[2006]]},"abstract":"Sex reversal is characterized by discordance between genetic and phenotypic sex. Most XX males result from an unequal interchange between X and Y chromosomes during paternal meiosis, therefore transferring <i>SRY<\/i> to the X chromosome, which explains the male development in the presence of an otherwise normal female karyotype. We present here the case of sex reversed <i>SRY+<\/i> male twins with several cell lines. They consulted for infertility. The presence of <i>SRY<\/i> on an X chromosome was demonstrated by FISH. Their respective karyotypes were: 46,X,der(X)t(X;Y)(p22.3;p11.2)[249]\/45,X [12]\/45,der(X)t(X;Y)(p22.3;p11.2)[11]\/47,XX,der(X)t(X;Y) (p22.3;p11.2)[1]\/47,X,der(X)t(X;Y)(p22.3;p11.2)\u00d72[1]\/50, XX,der(X)t(X;Y)(p22.3;p11.2)\u00d74[1]\/46,XX[1] for the first twin (SH-1) and 46,X,der(X)t(X;Y)(p22.3;p11.2)[108]\/45,X [3]\/47,XX,der(X)t(X;Y)(p22.3;p11.2)[2]\/45,der(X)t(X;Y) (p22.3;p11.2)[1]\/47,X,der(X)t(X;Y)(p22.3;p11.2)\u00d72[1] for the second twin (SH-2). There are three different types of XX males: 1) with normal genitalia, 2) with genital ambiguity, and 3) XX true hermaphrodites. The phenotype of the twins presented in this report is consistent with what is generally seen in XX <i>SRY+<\/i> males: they have normal genitalia.\u00a0\u00a0\u00a0<\/jats:p>","DOI":"10.1159\/000087532","type":"journal-article","created":{"date-parts":[[2005,11,4]],"date-time":"2005-11-04T08:38:02Z","timestamp":1131093482000},"page":"176-179","source":"Crossref","is-referenced-by-count":0,"title":["Complex mosaicism in sex reversed <i>SRY<\/i>+ male twins"],"prefix":"10.1159","volume":"112","author":[{"given":"M.","family":"DesGroseilliers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Fortin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Lemyre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Lemieux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2005,11,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159%2F000184281"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2894%2990501-0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F320170a0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1080%2F014850100262317"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159%2F000185438"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00284157"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1051%2Frnd%3A19900704"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2866%2992778-4"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1098%2Frstb.1988.0121"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00208942"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038%2F307172a0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819991203%2987%3A4%3C349%3A%3AAID-AJMG13%3E3.0.CO%3B2-N"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2F0168-9525%2896%2930022-X"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.35.9.727"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00210754"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.90.8.3368"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.29.8.539"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00303003"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038%2F319291a0"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F6.11.1985"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2871%2990287-X"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038%2F346240a0"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.35.1.17"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1159%2F000129812"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2894%2991029-4"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/87532","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/87532","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:22:49Z","timestamp":1745464969000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000087532"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11,3]]},"references-count":25,"journal-issue":{"issue":"1-2","published-online":{"date-parts":[[2005,11,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000087532","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2005,11,3]]}}}