{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T04:19:59Z","timestamp":1784693999919,"version":"3.55.0"},"reference-count":28,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T00:00:00Z","timestamp":1588550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>The occurrence of monochorionic diamniotic twins with sex discordance is a very rare phenomenon. We present a case of spontaneously conceived gender-discordant monochorionic diamniotic twins born to a 23-year-old female, both twins demonstrating similar blood karyotype 45,X\/46,X, idic(Y) and a novel 99\u2009kb mutation at 3p24.3 involving exons 15\u201316 of transcript NM_001134381.1 of the Tre-2\/Bub2\/Cdc16 Domain Family Member 5 ( TBC1D5) gene. The male twin showed no anatomic abnormalities and pelvic ultrasound revealed descended gonads. The female twin had a horseshoe-shaped kidney, normal uterus, and intra-abdominal gonads. The blood karyotype and microarray studies revealed similar distribution of X and isodicentric Y chromosome along with a novel genetic mutation which has not been previously reported. Our case findings not only report Turner syndrome mosaicism with a novel genetic mutation but also stress the importance of clinical follow-up of twins in order to evaluate the functional abnormalities associated with isodicentric Y chromosomes including germ cell tumors.<\/jats:p>","DOI":"10.1177\/1093526620908459","type":"journal-article","created":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T11:42:36Z","timestamp":1588592556000},"page":"392-398","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X\/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the\n                    <i>TBC1D5<\/i>\n                    Gene"],"prefix":"10.1177","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7130-5392","authenticated-orcid":false,"given":"Arati A","family":"Inamdar","sequence":"first","affiliation":[{"name":"Department of 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