120例遗传咨询者外周血染色体异常核型与临床关系分析  

Relationship analysis between abnormal karyotype of venule blood chromosome and clinical diagnosis in 120 cases

作　　者：窦蓉[1] 朱祖华[1] 孙晨光[1] 

机构地区：[1]上海市长宁区中心医院检验科遗传室,上海200336

出　　处：《中国优生与遗传杂志》2004年第6期58-60,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　为了分析外周血染色体异常核型与妇产科常见疾病的关系 ,探讨流产 ,死胎 ,畸胎 ,不孕不育 ,月经不调及青春期发育异常的遗传病因。方法　对 733个病例做外周血染色体培养 ,细胞收获 ,制片及G显带 ,并行染色体核型分析。结果　在 733个病例中 ,检出异常核型 12 0例 ,检出率 16 .8%。其中异常孕产史和不孕不育症 5 0例 ,占总数的 4 1.7%。原发闭经 ,无精子症 39例 ,占总数的 32 .5 %。智力低下 13例 ,占总数的 10 .8%。其它 18例 ,占总数的 15 .8%。结论　染色体异常核型是导致流产 ,死胎 ,畸胎 ,不孕不育的重要原因之一。染色体异常核型与原发闭经 ,无精子症 ,青春期发育异常有密切的关系。Object: To analyze the relationship between the abnormal karyotype of venule blood chromosome and common diseases in obstetrics and gynecology. The causes of following diseases related to the heredity have been studied, which are miscarriage, stillbirth, hydatid, infertility and sterility, menstrual disorder and abnormal adolescent growth. Methods: Venule blood hromosome cultivating, cell gathering, sample preparing, spectrum analysis, and karyotype analysis of parallel chromosome have been applied to 733 cases. Results: Among the 733 cases, 120 cases have karyotype disorder, which take 16.8% of the total cases. Among 120 cases with karyotype disorder, 50 cases of abnormal pregnancy, abnormal child delivery, infertility, and sterility take 41.7% of the cases, 39 cases of primary amenorthea and lack of sperm take 32.5% of the cases, 13 cases of retard babies take 10.8% of the cases, and 18 cases of others take 15.8% of the cases. Conclusion: Abnormal karyotype of chromosome is the major cause of miscarriage, stillbirth, hydatid, infertility and sterility. And there is a close relationship between abnormal karyotype of chromosome and the diseases, which are primary amenorthea, lack of sperm, abnormal adolescent growth.

关 键 词：染色体异常 核型分析 临床表现 

分 类 号：R394[医药卫生—医学遗传学]