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We report on two sibs with atypical genitalia and <jats:italic>SRY<\/jats:italic>\u2010negative 46,XX DSD, OT\u2010DSD was confirmed only in the boy, while the girl had bilateral ovaries. Chromosome microarray analysis (CMA) showed a 737\u2010kb duplication at Xq27.1 including the entire <jats:italic>SOX3<\/jats:italic> gene in both sibs, which was confirmed by quantitative real time PCR. Also, X chromosome inactivation assay showed random inactivation in both sibs. Whole exome sequencing revealed no pathogenic or likely pathogenic variant. CMA of the parents showed normal results for both, suggesting that germline mosaicism could be the reason of recurrence of this duplication in the siblings. Our results support a pathogenic role of <jats:italic>SOX3<\/jats:italic> overexpression in 46,XX subjects leading to variable DSD phenotypes.<\/jats:p>","DOI":"10.1002\/ajmg.a.63051","type":"journal-article","created":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T10:56:54Z","timestamp":1669201014000},"page":"592-598","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["<scp><i>SOX3<\/i><\/scp> duplication in a boy with 46,<scp>XX<\/scp> ovotesticular disorder of sex development and his 46,<scp>XX<\/scp> sister with atypical genitalia: Probable germline mosaicism"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4315-7302","authenticated-orcid":false,"given":"Fl\u00e1via Marcorin","family":"de Oliveira","sequence":"first","affiliation":[{"name":"Department of Translational Medicine School of Medical Sciences (FCM), University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz Amstalden","family":"Barros","sequence":"additional","affiliation":[{"name":"Department of Pediatrics FCM, University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Paula","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine School of Medical Sciences (FCM), University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilma L\u00facia Viguetti","family":"Campos","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine School of Medical Sciences (FCM), University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ta\u00eds Nitsch","family":"Mazzola","sequence":"additional","affiliation":[{"name":"Pediatric Research Center \u2013 Ciped FCM, University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Latuf","family":"Filho","sequence":"additional","affiliation":[{"name":"Pediatric Research Center \u2013 Ciped FCM, University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana Aparecida Lucci De Angelo","family":"Andrade","sequence":"additional","affiliation":[{"name":"Department of Pathology FCM, University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6508-8571","authenticated-orcid":false,"given":"Mara Sanches","family":"Guaragna","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maricilda Palandi","family":"de Mello","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Guerra\u2010Junior","sequence":"additional","affiliation":[{"name":"Department of Pediatrics FCM, University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"T\u00e1rsis Antonio Paiva","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine School of Medical Sciences (FCM), University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4850-8079","authenticated-orcid":false,"given":"Andr\u00e9a Trevas","family":"Maciel\u2010Guerra","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine School of Medical Sciences (FCM), University of Campinas (Unicamp)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,23]]},"reference":[{"key":"e_1_2_10_2_1","unstructured":"Ahmed F. 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