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《Journal of Sun Yat-sen University(Medical Sciences)》 2014-01
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Triple FISH for Application in Identification of Chromosomal Short Inversions in Couples with Spontaneous Abortions

HE Shu-jing;ZENG Yan-hong;SONG Xin-ming;SHI Rui-ting;CHEN Zheng;Department of Medical Genetics,Zhongshan School of Medicine,Sun Yat-sen University;The First Affiliated Hospital,Sun Yat-Sen University;  
【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.
【Fund】: 国家自然科学基金(30971601);; 广东省自然科学基金(9151008901000089);; 广东省科技计划项目(2010B031600039)
【CateGory Index】: R714.21
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