title: [A rare case of gonadal dysgenesis with 45, X-46, X ring X mosaic--case report].
abstract: This paper presents a case of gonadal dysgenesia with an uncommon structural X-chromosome abnormality (45, X-46, X, ring X mosaicism). The ring chromosome was not derived from an Y-chromosome as excluded by Q-banded analysis. The phenotypic expression of this abnormality caused typical Turner stigmata such as short stature, dysmorphic feature, streak ovaries with hypergonadotropic condition.
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010053:Ovary / Q000473:pathology; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology
vernacular_title: Seltener Fall einer Gonadendysgenesie mit 45, X-46, X, Ring X Mosaik-Kasuistik.