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We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Genome-wide copy number variation (CNV) analysis revealed a unique duplication of about 550 kb on chromosome Xq27, and a 46,XX karyotype, consistent with a sex reversal phenotype. This region includes multiple genes, and, among these,\n                    <jats:italic>SOX3<\/jats:italic>\n                    emerged as the main phenotypic driver. This is the fifth case reporting a genomic imbalance involving the\n                    <jats:italic>SOX3<\/jats:italic>\n                    gene in a 46,XX SRY-negative male, and the first with associated renal malformations. Our data provide plausible links between\n                    <jats:italic>SOX3<\/jats:italic>\n                    gene dosage and kidney malformations. It is noteworthy that the current and reported\n                    <jats:italic>SOX3<\/jats:italic>\n                    gene duplications are below the detection threshold of standard karyotypes and were found only by analyzing CNVs using DNA microarrays. Therefore, all 46,XX SRY-negative males should be screened for\n                    <jats:italic>SOX3<\/jats:italic>\n                    gene duplications with DNA microarrays.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2019-0006","type":"journal-article","created":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T05:04:26Z","timestamp":1566968666000},"page":"81-88","source":"Crossref","is-referenced-by-count":18,"title":["Duplication of the\n                    <i>SOX3<\/i>\n                    gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature"],"prefix":"10.2478","volume":"22","author":[{"given":"V","family":"Tasic","sequence":"first","affiliation":[{"name":"Medical Faculty Skopje , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Mitrotti","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Columbia University , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FG","family":"Riepe","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig-Holstein, Christian-Albrechts University Kiel , Kiel , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AE","family":"Kulle","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig-Holstein, Christian-Albrechts University Kiel , Kiel , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Laban","sequence":"additional","affiliation":[{"name":"Medical Faculty Skopje , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Polenakovic","sequence":"additional","affiliation":[{"name":"Research Centre for Genetic Engineering and Biotechnology \"Georgi D. Efremov,\" Macedonian Academy of Sciences and Arts , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Plaseska-Karanfilska","sequence":"additional","affiliation":[{"name":"Research Centre for Genetic Engineering and Biotechnology \"Georgi D. Efremov,\" Macedonian Academy of Sciences and Arts , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Sanna-Cherchi","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Columbia University , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Kostovski","sequence":"additional","affiliation":[{"name":"Medical Faculty Skopje , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Gucev","sequence":"additional","affiliation":[{"name":"Medical Faculty Skopje , Skopje , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2019,8,28]]},"reference":[{"key":"2026042718400274117_j_bjmg-2019-0006_ref_001_w2aab3b7b5b1b6b1ab1b4b1Aa","doi-asserted-by":"crossref","unstructured":"Blackless M, Charuvastra A, Denyck A, Fausto-Sterling A, Lauzanne K, Lee E. 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