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Prader-Willi综合征(PWS)是临床上常见的综合征之一,发病率约为1/10000。1976年Hawkey与Smithies等首先提出15号染色体结构重排与本病的发生有关。到目前为止,国外文献上报道的有染色体结构异常的PWS患者已近百例。本研究利用高分辨染色体显带技术对门诊筛选的1例PWS患者进行微细胞遗传学分析,以探讨该综合征染色体结构异常的特点。
Prader-Willi syndrome (PWS) is a common clinical syndrome, the incidence rate is about 1 / 10000. Hawkey and Smithies in 1976 first proposed chromosome 15 rearrangement and the occurrence of the disease. So far, there are nearly 100 cases of PWS patients with chromosomal abnormalities reported in foreign literature. In this study, one case of PWS patients screened by outpatient screening was analyzed by means of high-resolution chromosome banding technology to investigate the characteristics of chromosomal structural abnormalities in this syndrome.