扬州地区277例性染色体异常患者的临床及细胞遗传学分析  

Cytogenetic analysis of sex chromosomal abnormalities:an analysis of 277 cases in Yangzhou area

作　　者：张素华[1] 居云[2] 尹香花[3] 卢丹[3] 傅丹[3] 徐月新[1] 

机构地区：[1]江苏省苏北人民医院产前诊断中心 [2]江苏省苏北人民医院生殖医学中心,扬州225001 [3]江苏省苏北人民医院妇产科

出　　处：《中国优生与遗传杂志》2017年第5期63-65,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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 incidence of sex chromosomal abnormalities, distributed characteristic of various sex chromosome abnormal karyotypes and the relationship with diseases in Yangzhou, in order to provide more evidences for genetic counseling. Methods： Lymphocyte culture and G-banding karyotype analysis were performed on 6243 cases of genetic counseling in our hospital during 2006.11 to 2016.12. Results： Among 6243 patients, 277 cases were found with sex chromosomal abnormalities, of which Klinefelter syndrome 68 cases （24.55%） ; Turner syndrome 39 cases （14.08%） ; Sex reversal 13 cases （4.69%） ; XXX syndrome 6 cases （2.17%） ： Y chromosome polymorphism 133 case （48.01%） and 18 other cases （6.50%） . Conclusion： Sex chromosomal abnormality was directly attributable to azoospermia, short stature, amenorrhea and reproductive abnormalities.It is necessary to preform the most common diagnostic test for chromosomal abnormalities for patients with special clinical manifestations. These results show great practical significance in clinical diagnosis, aristogenesis and genetic counseling.

关 键 词：性染色体 细胞遗传学 异常核型 

分 类 号：R440[医药卫生—诊断学] R596[医药卫生—临床医学]