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目的通过对前来我院门诊进行遗传咨询人员的外周血淋巴细胞进行染色体核型分析,探讨扬州地区遗传咨询者中染色体异常分布情况及其与临床常见疾病的关系,指导临床咨询、处理和诊断。方法选取2006年11月-2015年12月在江苏省苏北人民医院5631例遗传咨询者,采用外周血淋巴细胞培养和G显带技术,进行细胞遗传学分析。结果 5631例遗传咨询者中,检查出染色体核型异常者247例,异常检出率为4.39%。结论染色体核型异常是导致成人流产、胚停、不孕不育症、儿童矮小及发育异常的重要原因之一,对具有特定临床表现就诊的患者,有必要对其进行外周血染色体检查,对临床诊断、优生优育及遗传咨询等方面具有重大的指导意义。
Objective To analyze the chromosomal karyotypes of peripheral blood lymphocytes from genetic counselors in our outpatient clinic to investigate the distribution of chromosomal abnormalities in genetic counselors in Yangzhou and its relationship with common clinical diseases and to guide clinical consultation, treatment and diagnosis . Methods 5631 cases of genetic counseling from Jiangsu North Jiangsu Provincial People’s Hospital from November 2006 to December 2015 were enrolled in this study. Cytogenetic analysis was performed using peripheral blood lymphocyte culture and G-banding technique. Results Among the 5631 cases of genetic counseling, 247 cases were found with abnormal karyotype, the rate of abnormality was 4.39%. Conclusion Chromosome karyotype abnormality is one of the important causes of miscarriage, embryo stop, infertility, dwarf and dysplasia in adults. It is necessary to carry out peripheral blood chromosomal examination in patients with specific clinical manifestations. Clinical diagnosis, prenatal and postnatal care, genetic counseling and other aspects of great significance.