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756例遗传咨询者的染色体分析
引用本文:沈红霞,林立. 756例遗传咨询者的染色体分析[J]. 大理学院学报:综合版, 2007, 6(4): 1-2,16
作者姓名:沈红霞  林立
作者单位:1. 大理学院附属医院检验科,云南大理,671000
2. 四川大学华西医院医学遗传室,四川成都,610073
摘    要:目的:探讨遗传性疾病的细胞遗传学基础.方法:对756例遗传咨询者进行外周血淋巴细胞染色体分析.结果:发现异常核型126例,异常检出率16.67%.结论:智力低下、流产、死胎、生育畸形儿、性发育不全及生殖力低下者的染色体检查,均有细胞遗传学改变.

关 键 词:遗传咨询  染色体异常  遗传病
文章编号:1672-2345(2007)04-0001-02
修稿时间:2007-01-22

The chromosome analysis of 756 cases of genetic counselors
SHEN Hong-xia,LIN Li. The chromosome analysis of 756 cases of genetic counselors[J]. Journal of Dali University, 2007, 6(4): 1-2,16
Authors:SHEN Hong-xia  LIN Li
Affiliation:1.Department of Laboratory, the Affiliated Hospital of Dali University, Dali, Yunnan 671000, China; 2. Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610073, China
Abstract:Objective: To investigate the cytogenetical basis of clinical genetic diseases.Methods: The chromosomes were obtained by culturing peripheral blood lymph cells collected from 756 cases for genetic counseling.Results: 126 out of 756 cases had karyo-type aberration.The rate of abnormality is 16.66%.Conclusion: All cases which had mental retardation,miscarriage,dead fetus,abnormal growth and sexual development abnormality had cytogenetical abnormality and the clinical manifestation could be caused by chromosomal change.
Keywords:genetic counseling   chromosomes abnormality   clinical diseases
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