{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T11:32:43Z","timestamp":1774611163945,"version":"3.50.1"},"reference-count":28,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2021,9,10]],"date-time":"2021-09-10T00:00:00Z","timestamp":1631232000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,9,10]],"date-time":"2021-09-10T00:00:00Z","timestamp":1631232000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Copy number variations of several genes involved in the process of gonadal determination have been identified as a cause of 46,XY differences of sex development. We report a non-syndromic 14-year-old female patient who was referred with primary amenorrhea, absence of breast development, and atypical genitalia. Her karyotype was 47,XY,+mar\/46,XY, and FISH analysis revealed the X chromosome origin of the marker chromosome. Array-CGH data identified a pathogenic 2.0-Mb gain of an Xp21.2 segment containing &lt;i&gt;NR0B1\/DAX1&lt;\/i&gt; and a 1.9-Mb variant of unknown significance from the Xp11.21p11.1 region. This is the first report of a chromosomal microarray analysis to reveal the genetic content of a small supernumerary marker chromosome detected in a 47,XY,+der(X)\/46,XY karyotype in a non-syndromic girl with partial gonadal dysgenesis and gonadoblastoma. Our findings indicate that the mosaic presence of the small supernumerary Xp marker, encompassing the &lt;i&gt;NR0B1\/DAX1&lt;\/i&gt; gene, may have been the main cause of dysgenetic testes development, although the role of &lt;i&gt;MAGEB&lt;\/i&gt; and other genes mapped to the Xp21 segment could not be completely ruled out. <\/jats:p>","DOI":"10.1159\/000517085","type":"journal-article","created":{"date-parts":[[2021,9,10]],"date-time":"2021-09-10T21:00:32Z","timestamp":1631307632000},"page":"55-63","source":"Crossref","is-referenced-by-count":5,"title":["A Small Supernumerary Xp Marker Chromosome Including Genes &lt;b&gt;&lt;i&gt;NR0B1&lt;\/i&gt;&lt;\/b&gt; and &lt;b&gt;&lt;i&gt;MAGEB&lt;\/i&gt;&lt;\/b&gt; Causing Partial Gonadal Dysgenesis and Gonadoblastoma"],"prefix":"10.1159","volume":"16","author":[{"given":"Mirian Yumie","family":"Nishi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Ant\u00f4nia 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