【摘要】 【目的】对2例婚后妻子连续2次流产伴21号染色体结构改变病例进行多探针荧光原位杂交(FISH),探讨FISH技术在临床诊断微小区域染色体结构异常的应用价值。【方法】通过染色体常规G显带技术初步确定染色体结构异常类型及染色体断裂的区带位置,然后挑选位于21号染色体长臂位点特异性BAC克隆,缺口平移法将其标记为探针,与21号染色体长臂末端的商品化探针混合,进行三色FISH。【结果】FISH结果排除了涉及其它染色体结构异常的可能,确定这2例均为21号染色体长臂微小区段的臂内倒位,这是首次关于21号染色体臂内倒位导致自发流产病例的报道。【结论】21号染色体臂内倒位与自然流产相关;多色FISH技术在诊断和确定微小区域染色体结构异常中有非常重要的作用和应用价值。更多还原

【Abstract】 【Objective】 To analyze chromosomal structural changes in two cases, whose wives had recurrent spontaneous abortions; to study the application of FISH in clinical diagnosis of chromosome microstructure abnormality. 【Methods】 Chromosome Gbanding? karyotype analysis was performed to initially identify the structural aberrations. The BAC clones, which are located in chromosome 21 q-arm, were labeled with nick translation kit. Triple FISH was conducted with commercial probes and BAC clone probes. 【Results】 FISH images excluded the possibility of interchromosomal exchanges between chromosomes 21 and other chromosomes, and identified that the two cases were short inversions in the q-arms of chromosomes 21. It was the first case report of chromosome 21 paracentric inversion leading to abortions. 【Conclusions】 Chromosome 21 paracentric inversion is related to spontaneous abortions. Multiple FISH technology is important and valuable in identification and diagnosis of chromosome microstructure abnormality.更多还原