三例Prader－Willi综合征的微细胞遗传学研究

CYTOGENETIC STUDY OF THREE CASES OF PRADER-WILLI SYNDROME

应用高分辨染色体显带技术，对门诊筛选的３例Ｐｒａｄｅｒ－Ｗｉｌｌｉ综合征进行了微细胞遗传学研究，发现其中２例１５号染色体长臂发生了微小的中间缺失，另１例核型正常。从而进一步证明高分辨染色体显带技术在临床诊断及优生工作中的重要性。

Three cases of Prader-Willi syndrome diagnosed clinically were studied cytogenetically, using chromosome high-resolution banding technique. Two of them had small intersticial deletion of 15q and the other had normal karyotype. The result shows the importance of chromosome high-resolution banding technique for the clinical diagnosis of Prader-Willi syndrome and also for the eugeneties work.