摘要
目的探讨连云港地区遗传咨询者外周血染色体异常核型出现的类型、发生率及与临床疾病的关系。方法采用外周血淋巴细胞培养和G显带技术,进行细胞遗传学染色体核型分析。结果 4079例遗传咨询者中检出染色体核型异常209例,异常检出率为5.12%(209/4079)。其中染色体数目异常83例,占异常核型39.71%(83/209);染色体结构异常126例,占异常核型60.29%(126/209)。结论连云港地区遗传咨询者中染色体核型异常检出率较高,这些染色体异常与不良孕产、不孕不育、先天畸形、智力低下、原发闭经、发育迟缓、两性畸形等临床症状有密切关系。
Objective：To investigate the types and incidence of chromosome abnormal karyotypes in peripheral blood of genetic counselors in Lianyungang area and their relationship with clinical diseases. Methods：A total of 4079 genetic counselors in the region were analyzed for cytogenetics using peripheral blood lymphocyte and G-banding techniques. Results：Among 409 cases of genetic counselors,209 cases had abnormal chromosome karyotypes. The abnormal detection rate was 5.12%（209/4079）. Among them,there were 83 cases of chromosome abnormalities,accounting for 39.71%（83/209）of abnormal karyotypes,and 126 cases of abnormal chromosome structure,accounting for 60.29%（126/209）of abnormal karyotypes. Conclusion The detection rate of chromosomal abnormalities in genetic counselors from Lianyungang area is high. These chromosomal abnormalities are closely related to clinical symptoms such as poor motherhood,infertility,congenital malformations,mental retardation,primary amenorrhea,stunting,and hermaphroditism. relationship.
作者
王永安
谭娟
王雷雷
尹婷
章荣
郑安舜
顾莹
WANG Yong-an;TAN Juan;WANG Lei-lei;YIN Ting;ZHANG Rong;ZHENG An-shun;GU Ying(Department of Medical Genetics and Prenatal Diagnosis,Lianyungang Maternal and Child Health Care Hospital,Lianyungang,Jiangsu 222000,China)
出处
《中国优生与遗传杂志》
2018年第9期19-21,14,共4页
Chinese Journal of Birth Health & Heredity
基金
连云港市"科教强卫工程"青年科技项目(QN1608)
关键词
遗传咨询
染色体异常
核型分析
Genetic counseling
Chromosomal abnonnalities
Karyotype analysis
