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近年来,我们在临床医学细胞遗传学研究中,坚持科研为临床服务的方向。自1985年5月至1989年12月从遗传咨询门诊病人中选择609例进行了细胞遗传学分析,检出染色体数目及结构异常者44例,占7.2％。其中发现3种5例世界首报和3种6例国内首报异常染色体核型,并已经中国遗传医学中心湖南医科大学医学细胞遗传学国家培训中心的专家鉴定,这些异常核型将与研究单位名称、实验室名称和主要研究人员名单一起收入《中国人类染色体异常目录》和《世界首报人类染色体异常核型图谱》。现将首报核型简介如下:
In recent years, we are in the clinical research of cytogenetics, adhere to the direction of scientific research for clinical services. From May 1985 to December 1989, 609 cases of genetic counseling outpatients were selected for cytogenetic analysis, and 44 cases (7.2%) were detected chromosomal number and structural abnormalities. Which found three kinds of 5 cases of the world’s first report and 3 kinds of 6 cases of the first domestic anomalous karyotype and has China Genetic Medicine Center Hunan Medical University Medical Cytogenetics National Training Center of experts identified these abnormal karyotype and research units Name, laboratory name and the list of key researchers together income “Chinese human chromosome abnormalities directory” and “the world’s first human chromosome abnormalities karyotype map.” Now the first report karyotype profile is as follows: