Ragg S, Härle M, Scherthan H
Department of Pathology, University of Heidelberg, Mannheim Medical Center, Germany.
Mod Pathol. 1995 Apr;8(3):295-8.
45,X/47,XYY mosaicism is a rare condition with scarce information on the tissue-specific distribution of the different cell lines. Fluorescence in situ hybridization with repetitive, chromosome-specific DNA probes was applied to gain insight into the tissue-specific distribution of the two cell lines in biopsies of the streak gonad and dysgenetic testis of a 2-year-old individual exhibiting 45,X/47,XYY mosaicism. The distribution of the 45,X/47,XYY cells within different tissues was found to be nonrandom. The coelomic epithelium, the vascular endothelium, and the prepuberal germ cells exhibited predominantly a 47,XYY karyotype. In contrast, Sertoli cells exhibited both karyotypes, and the remaining tissue was predominantly composed of 45,X cells. The contribution of the two cell lines to gonadal development is discussed.
45,X/47,XYY嵌合体是一种罕见病症，关于不同细胞系的组织特异性分布的信息匮乏。应用针对染色体特异性的重复DNA探针进行荧光原位杂交，以深入了解一名患有45,X/47,XYY嵌合体的2岁个体的条索状性腺和发育不全睾丸活检组织中两种细胞系的组织特异性分布。结果发现，45,X/47,XYY细胞在不同组织中的分布并非随机。体腔上皮、血管内皮和青春期前生殖细胞主要呈现47,XYY核型。相比之下，支持细胞呈现两种核型，其余组织主要由45,X细胞组成。文中讨论了两种细胞系对性腺发育的作用。
