摘要
本文对枣庄地区1950例遗传咨询者进行外周血细胞培养,常规染色体制备,G显带核型分析,共检出异常核型175例,异常率为8.97%(175/1950),异常核型涉及到三体型、单体型、罗伯逊易位、不平衡重排等。受检者中不良孕产史1125例,检出异常核型89例,占异常核型的51%(89/175);不同程度的智力低下356例,异常核型54例,占异常核型的31%(54/175);不孕不育469例,异常核型32例,占异常核型的18%(32/175)。结果表明,染色体核型分析对不良孕产史、智力低下、不孕不育等疾病的诊断具有重要意义,并且与D、G组短臂变异和Y染色体长度变异也有一定的相关性,应引起临床上高度重视。
Zaozhuang 1950 cases genetic counseling′s peripheral blood cell culture,conventional preparation of chromosome and G banding karyotype were analysed.It was found 175 cases abnormalities,abnormalities frequency for 8.97%（175/1950）,abnormal karyotype involves trisomy,haplotype,Robertsonian translocation,and unbalanced rearrangement.1125 cases of adverse pregnancy history subjects,detected abnormal karyotype 89 cases,accounting for abnormal karyotype 51%（89/175）,and varying degrees of mental retardation 356 cases,detected abnormal karyotype 54 cases,accounting for abnormal karyotype 31%（54/175）,infertility 469 cases,abnormal karyotype 32 cases,accounting for 18% of the abnormal karyotype（32/175）.Karyotype analysis for adverse pregnancy history,mental retardation,infertility,disease diagnosis is important,and interrelate to D,G group of the short arm of variation,and the length of the Y chromosome variation,these should cause clinical attention.
出处
《中国优生与遗传杂志》
2013年第3期57-58,116,共3页
Chinese Journal of Birth Health & Heredity
关键词
遗传咨询
染色体核型分析
不良孕产史
智力低下
不孕不育
Genetic counseling
Karyotype analysis
Adverse pregnancy history
Mental retardation
Infertility
