Albert P J, Gille J, Schmid M
Geburtshilfe Frauenheilkd. 1986 Jul;46(7):473-4. doi: 10.1055/s-2008-1036240.
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.
本文报道了一例性腺发育不全病例，伴有罕见的结构性X染色体异常（45,X-46,X,环状X染色体嵌合体）。经Q带分析排除，该环状染色体并非源自Y染色体。这种异常的表型表现导致了典型的特纳综合征体征，如身材矮小、畸形特征、条索状卵巢伴高促性腺激素状态。
