七种世界首报核型中期及高分辨G-显带分析

REPORT OF 7 CASES WITH NEW KARYOTYPE CHROMOSOME ABNORMALITY IN THE WORLD AND THE ANALYSIS WITH G-BANDING AND HRC

本文报告了7种世界首报染色体异常核型,并用高分辨显带技术对异常染色体的断裂点进行了精确定位,同时还对X-常染色体平衡易位引起临床症状的可能原因以及高分辨显带在染色体病诊断方面的优越性进行了讨论。

The paper first reports 7 cases of new karyotype of chromosome abnormalityin the world. Their breakage points were definitely located by high-resolutionchromosome (HRC). It is also discussed that possible reasons of the clinicalsigns result from X-autosome balanced translocation and advantages of HRCin diagnosis of chromosome disease.