A rare case of gonadal dysgenesis with 45, X-46, X ring X mosaic--case report

Geburtshilfe und Frauenheilkunde
P J AlbertM Schmid

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.

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