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目的探讨扬州地区性染色体异常核型的发生类型及其临床表现分析,指导遗传咨询。方法选取2006年11月-2016年12月在江苏省苏北人民医院6243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。结果检查发现性染色体核型异常者277例,其中Klinefelter综合征68例,占24.55%;Turner综合征39例,占14.08%;性别反转13例,占4.69%;超X综合征6例,占2.17%;Y多态性133例,占48.01%;其他18例,占6.50%。结论性染色异常是导致无精子症、矮小、原发闭经及生殖异常的重要原因之一,对具有特定临床表现的患者,有必要进行外周血染色体检查,助于临床诊断与治疗。
Objective To investigate the types and clinical manifestations of chromosomal abnormal karyotypes in Yangzhou and to guide genetic counseling. Methods A total of 6243 cases of genetic counseling from Jiangsu North Jiangsu Provincial People’s Hospital from November 2006 to December 2016 were selected and analyzed by cytogenetic analysis using peripheral blood lymphocyte culture and G-banding technique. Results 277 cases were found karyfelter abnormalities, of which Klinefelter syndrome in 68 cases, accounting for 24.55%; Turner syndrome in 39 cases, accounting for 14.08%; sex reversal in 13 cases, accounting for 4.69%; super X syndrome in 6 cases, Accounting for 2.17%; Y polymorphism in 133 cases, accounting for 48.01%; the other 18 cases, accounting for 6.50%. Conclusions Sexual dyspepsia is one of the most important causes of azoospermia, shortness, primary amenorrhea and reproductive abnormalities. It is necessary to carry out peripheral blood chromosomal examinations for clinical diagnosis and treatment of patients with specific clinical manifestations.