45,X/46,X,r(?)嵌合型Turner综合征的分子细胞遗传学研究

Molecular Cytogenetic Study of Turner's Syndrome with the 45, X/46, X,r(?) Karyotype

应用高分辨染色体显带及X染色体α－卫星DNA探针原位杂交技术，对两例45，X／46，X，r（？）嵌合型Turner综合征患者进行分析，确定其环状标记染色体皆来源于X染色体，为临床诊断提供了可靠依据。将高分辨染色体显带等细胞遗传学技术与某些分子生物学技术结合，对于确定微小染色体异常具有广阔的应用前景。

Two small marker chromosomes were identified as X-derived ring chromosomes by us-ing the high-resolution banding technique and in situ hybridization with a radioactively labelled human X-chromosome-specific satellite DNA probe. This procedure clearly determined the origin of the marker chromosome, which had been impossible using conventionalcytogenetic techniques. The clinical significance of this work is briefly discussed.