{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T14:11:25Z","timestamp":1790604685010,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1038\/s10038-020-0748-4","type":"journal-article","created":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T06:02:47Z","timestamp":1586498567000},"page":"705-709","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A case of a parthenogenetic 46,XX\/46,XY chimera presenting ambiguous genitalia"],"prefix":"10.1038","volume":"65","author":[{"given":"Rie","family":"Kawamura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takema","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunsuke","family":"Miyai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Naru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miwako","family":"Nagasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Tsutsumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehito","family":"Inagaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoaki","family":"Ioroi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoya","family":"Nao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura K.","family":"Conlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Kurahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Taniguchi-Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,4,10]]},"reference":[{"key":"748_CR1","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1073\/pnas.48.3.332","volume":"48","author":"SM Gartler","year":"1962","unstructured":"Gartler SM, Waxman SH, Giblett E. An XX\/XY human hermaphrodite resulting from double fertilization. Proc Natl Acad Sci USA. 1962;48:332\u20135.","journal-title":"Proc Natl Acad Sci USA"},{"key":"748_CR2","doi-asserted-by":"publisher","first-page":"1325","DOI":"10.1007\/s10815-018-1194-5","volume":"35","author":"RJ Laursen","year":"2018","unstructured":"Laursen RJ, Alsbjerg B, Vogel I, Gravholt CH, Elbaek H, Lildballe DL, et al. Case of successful IVF treatment of an oligospermic male with 46,XX\/46,XY chimerism. J Assist Reprod Genet. 2018;35:1325\u20138.","journal-title":"J Assist Reprod Genet"},{"key":"748_CR3","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1007\/s10815-017-1064-6","volume":"35","author":"KM Sheets","year":"2018","unstructured":"Sheets KM, Baird ML, Heinig J, Davis D, Sabatini M, Starr DB. A case of chimerism-induced paternity confusion: what ART practitioners can do to prevent future calamity for families. J Assist Reprod Genet. 2018;35:345\u201352.","journal-title":"J Assist Reprod Genet"},{"key":"748_CR4","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1093\/humrep\/del480","volume":"22","author":"V Malan","year":"2007","unstructured":"Malan V, Gesny R, Morichon-Delvallez N, Aubry MC, Benachi A, Sanlaville D, et al. Prenatal diagnosis and normal outcome of a 46,XX\/46,XY chimera: a case report. Hum Reprod. 2007;22:1037\u201341.","journal-title":"Hum Reprod."},{"key":"748_CR5","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1111\/j.1399-0004.2006.00689.x","volume":"70","author":"V Malan","year":"2006","unstructured":"Malan V, Vekemans M, Turleau C. Chimera and other fertilization errors. Clin Genet. 2006;70:363\u201373.","journal-title":"Clin Genet"},{"key":"748_CR6","doi-asserted-by":"publisher","first-page":"2119","DOI":"10.1002\/ajmg.a.35476","volume":"158","author":"SY Shin","year":"2012","unstructured":"Shin SY, Yoo HW, Lee BH, Kim KS, Seo EJ. Identification of the mechanism underlying a human chimera by SNP array analysis. Am J Med Genet A. 2012;158:2119\u201323.","journal-title":"Am J Med Genet A"},{"key":"748_CR7","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-85","volume":"13","author":"KF Lee","year":"2012","unstructured":"Lee KF, Hsu CS, Kuo PL, Chen JL, Jiang YH, Liu IY. The identification of a spontaneous 47,XX,+21\/46,XY chimeric fetus with male genitalia. BMC Med Genet. 2012;13:85.","journal-title":"BMC Med Genet"},{"key":"748_CR8","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1136\/jmg.2010.079343","volume":"47","author":"K Yamazawa","year":"2010","unstructured":"Yamazawa K, Nakabayashi K, Kagami M, Sato T, Saitoh S, Horikawa R, et al. Parthenogenetic chimaerism\/mosaicism with a Silver-Russell syndrome-like phenotype. J Med Genet. 2010;47:782\u20135.","journal-title":"J Med Genet"},{"key":"748_CR9","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1086\/301796","volume":"62","author":"JC Giltay","year":"1998","unstructured":"Giltay JC, Brunt T, Beemer FA, Wit JM, van Amstel HK, Pearson PL, et al. Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX\/46,XY hermaphrodite. Am J Hum Genet. 1998;62:937\u201340.","journal-title":"Am J Hum Genet"},{"key":"748_CR10","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1136\/jmg.2005.033571","volume":"43","author":"KA Kaiser-Rogers","year":"2006","unstructured":"Kaiser-Rogers KA, McFadden DE, Livasy CA, Dansereau J, Jiang R, Knops JF, et al. Androgenetic\/biparental mosaicism causes placental mesenchymal dysplasia. J Med Genet. 2006;43:187\u201392.","journal-title":"J Med Genet"},{"key":"748_CR11","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1136\/jmg.2005.034116","volume":"43","author":"I Giurgea","year":"2006","unstructured":"Giurgea I, Sanlaville D, Fournet JC, Sempoux C, Bellann\u00e9-Chantelot C, Touati G, et al. Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet. 2006;43:248\u201354.","journal-title":"J Med Genet"},{"key":"748_CR12","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1056\/NEJMoa1701313","volume":"28","author":"MT Gabbett","year":"2019","unstructured":"Gabbett MT, Laporte J, Sekar R, Nandini A, McGrath P, Sapkota Y, et al. Molecular support for heterogonesis resulting in sesquizygotic twinning. N Engl J Med. 2019;28:842\u20139.","journal-title":"N Engl J Med"},{"key":"748_CR13","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1080\/15592294.2016.1146854","volume":"3","author":"J Davidsson","year":"2016","unstructured":"Davidsson J, Johansson B. Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p. Epigenetics. 2016;3:194\u2013204.","journal-title":"Epigenetics."},{"key":"748_CR14","doi-asserted-by":"publisher","first-page":"1263","DOI":"10.1093\/hmg\/ddq003","volume":"19","author":"LK Conlin","year":"2010","unstructured":"Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010;19:1263\u201375.","journal-title":"Hum Mol Genet"},{"key":"748_CR15","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1038\/nrg3424","volume":"14","author":"LG Biesecker","year":"2013","unstructured":"Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet. 2013;14:307\u201320.","journal-title":"Nat Rev Genet"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-020-0748-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-020-0748-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-020-0748-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T19:04:48Z","timestamp":1709319888000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-020-0748-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,10]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["748"],"URL":"https:\/\/doi.org\/10.1038\/s10038-020-0748-4","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,10]]},"assertion":[{"value":"17 December 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 March 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 March 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 April 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}