{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T04:20:22Z","timestamp":1784694022593,"version":"3.55.0"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,25]],"date-time":"2020-06-25T00:00:00Z","timestamp":1593043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["NCCHD 2019A\u20104"],"award-info":[{"award-number":["NCCHD 2019A\u20104"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Monozygotic twins with 45,X\/46,XY mosaicism, discordant for phenotypic sex, are extremely rare.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This report describes the clinical findings of a rare case of 45,X\/46,XY mosaicism in monozygotic twins with different external genitalia. Single nucleotide polymorphism (SNP) array analysis, performed by collecting DNA from each umbilical cord, showed identical SNPs in the autosomal chromosomes of both fetuses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Chorionic villus sampling of a 37\u2010year\u2010old primigravida carrying monozygotic twins revealed a 45,X\/46,XY karyotype. Autopsy of the aborted fetuses revealed a penis and testes on one fetus and a vagina, uterus, and ovaries in the other fetus\u2013\u2013which also had severe cystic hygroma. Cell counting using fluorescence in situ hybridization with XY probes (XY\u2010FISH) showed 20% and 80% abundance of 45,X cells in the internal genitalia, liver, heart, lung, adrenal gland, bone marrow, and spine of the male and female fetuses, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These results indicated that the fetuses were genetically monozygotic twins and their different degrees of mosaicism may have resulted in different genital phenotypes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1382","type":"journal-article","created":{"date-parts":[[2020,6,25]],"date-time":"2020-06-25T09:41:53Z","timestamp":1593078113000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Monochorionic diamniotic twins of discordant external genitalia with 45,X\/46,XY mosaicism"],"prefix":"10.1002","volume":"8","author":[{"given":"Ken","family":"Takahashi","sequence":"first","affiliation":[{"name":"Center for Maternal\u2010Fetal\u2010Neonatal and Reproductive Medicine National Center for Child Health and Development Setagaya\u2010ku Tokyo Japan"},{"name":"Department of Maternal\u2010Fetal Biology National Research Institute for Child Health and Development Setagaya\u2010ku Tokyo Japan"},{"name":"Department of Obstetrics and Gynecology The Jikei University School of Medicine Minato\u2010ku Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taisuke","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology National Research Institute for Child Health and Development Setagaya\u2010ku Tokyo Japan"},{"name":"Department of Obstetrics and Gynecology The Jikei University School of Medicine Minato\u2010ku Tokyo 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