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4268例遗传咨询者外周血染色体核形分析
引用本文:赵达亚.4268例遗传咨询者外周血染色体核形分析[J].黑龙江医学,2009,33(9):676-678.
作者姓名:赵达亚
作者单位:哈尔滨医科大学第一临床医学院遗传室,黑龙江,哈尔滨,150001
摘    要:本文对4 268例遗传咨询者的染色体结果进行了分析,共检出异常核型479例,异常检出率为11.2%。其中,常染色体异常324例,占7.6%;性染色体异常155例,占3.6%。在常染色体异常核型中,检出21三体综合征220例;在性染色体异常核型中,Tuener综合征60例、47,XXY综合征54例、性反转综合征18例。

关 键 词:外周血培养  染色体核型分析  遗传咨询

Report on Blood Chromosomes Karyotyping Result in 4 268 Genetic Counseling People
ZHAO Da-ya.Report on Blood Chromosomes Karyotyping Result in 4 268 Genetic Counseling People[J].Heilongjiang Medical Journal,2009,33(9):676-678.
Authors:ZHAO Da-ya
Institution:ZHAO Da- ya( Cytogenetic Laboratory, The First Affiliated Hospital of Harbin Medical University, Harbin 150001, China )
Abstract:479 frequencies of chromosome abnormalities were detected in 4 268 genetic counseling people study. There were 324 autosomal abnormalities and 155 sex chromosome abnormalities. 220 21 - trisomy syndrome eases were found in 324 autosomal abnormalities; 60 Turner Syndrome cases, 54 Klinefeher syndrome cases, 18 sex reversal syndrome cases and so on in 155 sex chromosome abnormalities.
Keywords:Pheripheral blood culture  Chromosome karyatyping  Genetic counseling
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