{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:21:21Z","timestamp":1761488481795},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":4165,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1997,2]]},"abstract":"<jats:p> <jats:italic>SRY<\/jats:italic> on the Y chromosome initiates male sex determination. We tested a phenotypic female with sex chromosome mosaicism, X\/XYY, for <jats:italic>SRY<\/jats:italic> expression. <jats:italic>SRY<\/jats:italic> was determined by polymerase chain reaction (PCR) amplification in genomic DNA from a female patient with a sex chromosome mosaic complement, 45, X\/47, XYY, followed by sequencing analyses. The patient yielded the PCR product with predicted size and homology to the consensus sequence of <jats:italic>SRY.<\/jats:italic> The demonstration of <jats:italic>SRY<\/jats:italic> provides evidence that the female phenotype in the presence of sex chromosome mosaicism, X\/XYY, may result from alterations in another part of the sex\u2010determining pathway or downstream from <jats:italic>SRY.<\/jats:italic><\/jats:p>","DOI":"10.1111\/j.1399-0004.1997.tb02434.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T08:08:33Z","timestamp":1279526913000},"page":"124-126","source":"Crossref","is-referenced-by-count":5,"title":["Detection of <i>SRY<\/i> in 45, X\/47, XYY mosaicism leading to phenotypic female"],"prefix":"10.1111","volume":"51","author":[{"given":"Atsushi","family":"Imai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Horibe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuo","family":"Fuseya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Takagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Takagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teruhiko","family":"Tamaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1395"},{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/348448a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196204052661404"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.27.120193.000443"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/346245a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.suppl_1.1463"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00215684"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530204"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19941101)74:9<2555::AID-CNCR2820740925>3.0.CO;2-X"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/348452a0"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90164-N"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390111"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91029-4"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00192884"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.1997.tb02434.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.1997.tb02434.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T08:23:28Z","timestamp":1698395008000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.1997.tb02434.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,2]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,2]]}},"alternative-id":["10.1111\/j.1399-0004.1997.tb02434.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.1997.tb02434.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,2]]}}}