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利用染色体高分辨显带、SNRPN基因甲基化PCR及Southern杂交确诊了 1例Prader-Willi综合征 (PWS)患者。该患儿具有PWS典型症状并伴有糖尿病。通过报道这一病例及复习文献资料 ,分析PWS的临床特征 ,简要讨论其发病机制及遗传学诊断方法。
One case of Prader-Willi syndrome (PWS) was diagnosed by high-resolution banding, SNRPN gene methylation PCR and Southern blotting. The child has the typical symptoms of PWS with diabetes. By reporting this case and reviewing the literature, the clinical features of PWS were analyzed and its pathogenesis and genetics diagnosis were briefly discussed.