{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T10:47:59Z","timestamp":1781520479842,"version":"3.54.1"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4126,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe whole\u2010body chimerism in a newborn infant with small phallus, pseudo\u2010vaginal perineal hypospadias, and a bifid scrotum containing gonads. The human testis determining factor gene (<jats:italic>SRY<\/jats:italic>) was detected by PCR amplification. GTG\u2010banding chromosome analysis in peripheral blood lymphocytes and cultured fibroblasts derived from right cubital skin showed a 46,XX\/47,XY, + 21 karyotype. Their ratios in each cell line were 294:5 and 178:7, respectively. QFQ\u2010banding chromosome analysis documented 3 heteromorphic statellites on trisomic chromosomes 21 in the 47,XY, + 21 cell line and a homozygous statellite pattern in the 46,XX cell line. Heteromorphic patterns of chromosomes 4, 13, 14, and 22 were also different between the two cell lines. To our knowledge, such disomy\/trisomy chimeras have not been described previously. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490415","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:57:00Z","timestamp":1118509020000},"page":"428-430","source":"Crossref","is-referenced-by-count":18,"title":["Case of 46,XX\/47,XY, + 21 chimerism in a newborn infant with ambiguous genitalia"],"prefix":"10.1002","volume":"49","author":[{"given":"Tomoko","family":"Sawai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaaki","family":"Yoshimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ei\u2010Ichi","family":"Kinoshita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneyoshi","family":"Baba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiro","family":"Tsuji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinpei","family":"Fukuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Harada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/hdy.1951.38"},{"key":"e_1_2_1_3_1","first-page":"378","article-title":"A case of XX\/XY mosaicism","volume":"17","author":"Corey MJ","year":"1967","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1974.tb01994.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7350665"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.12.784"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb02032.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.bmb.a070658"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.48.3.332"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569224"},{"key":"e_1_2_1_11_1","first-page":"511","volume-title":"Blood Groups in Man","author":"Race RR","year":"1975"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320490415","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320490415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:58:30Z","timestamp":1698112710000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320490415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2,15]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,2,15]]}},"alternative-id":["10.1002\/ajmg.1320490415"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320490415","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,2,15]]}}}