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We describe a girl with 46,XY partial gonadal dysgenesis carrying a 297 kb duplication at Xp21.2 upstream of NR0B1 initially detected by chromosomal microarray analysis. Fine mapping of the breakpoints by whole-genome sequencing showed a tandem duplication of TASL (CXorf21), GK and partially TAB3, upstream of NR0B1. This is the first description of an Xp21.2 duplication upstream of NR0B1 associated with 46,XY partial gonadal dysgenesis.<\/jats:p>","DOI":"10.3390\/ijms24010494","type":"journal-article","created":{"date-parts":[[2022,12,28]],"date-time":"2022-12-28T08:38:19Z","timestamp":1672216699000},"page":"494","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication"],"prefix":"10.3390","volume":"24","author":[{"given":"Ana Paula","family":"Francese-Santos","sequence":"first","affiliation":[{"name":"Department of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"},{"name":"Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob A.","family":"Meinel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiane S. C.","family":"Piveta","sequence":"additional","affiliation":[{"name":"Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana G. R.","family":"Andrade","sequence":"additional","affiliation":[{"name":"Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"},{"name":"Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz A.","family":"Barros","sequence":"additional","affiliation":[{"name":"Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"},{"name":"Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Fabbri-Scallet","sequence":"additional","affiliation":[{"name":"Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil"},{"name":"Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L\u00facia","family":"Gil-da-Silva-Lopes","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Guerra-Junior","sequence":"additional","affiliation":[{"name":"Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"},{"name":"Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0692-2105","authenticated-orcid":false,"given":"Axel","family":"K\u00fcnstner","sequence":"additional","affiliation":[{"name":"Group of Medical Systems Biology, L\u00fcbeck Institute of Experimental Dermatology, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4763-4521","authenticated-orcid":false,"given":"Hauke","family":"Busch","sequence":"additional","affiliation":[{"name":"Group of Medical Systems Biology, L\u00fcbeck Institute of Experimental Dermatology, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0521-9100","authenticated-orcid":false,"given":"Maricilda P.","family":"de Mello","sequence":"additional","affiliation":[{"name":"Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil"},{"name":"Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3718-3595","authenticated-orcid":false,"given":"Ralf","family":"Werner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"},{"name":"Institute of Molecular Medicine, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4850-8079","authenticated-orcid":false,"given":"Andr\u00e9a T.","family":"Maciel-Guerra","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"},{"name":"Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/cen.13717","article-title":"Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis","volume":"89","author":"Gomes","year":"2018","journal-title":"Clin. 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