西安地区638例遗传咨询儿童细胞遗传学分析
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摘要
目的通过分析我院遗传咨询患儿染色体异常核型类别及发生率,探讨染色体异常与疾病的关系。方法采用常规外周血淋巴细胞培养及染色体制备,G显带,核型分析。结果 638例遗传咨询患儿中,检出异常核型156例,异常检出率为24.45%。其中染色体数目异常118例,占异常核型的75.64%,染色体结构异常26例,占异常核型的16.67%,染色体多态性变异12例,占异常核型的7.69%。结论染色体异常是导致儿童智力低下,先天性畸形,身材矮小重要的原因之一,应引起临床医生重视,不断提高染色体疾病的诊断准确率。
Objective:To discuss the relationship between chromosome abnormality and disease through having analysis of the incidence of abnormal karyotype of our hospital genetic counseling children. Methods:Chromosome samples were cultured through conventional peripheral blood lymphocyte and chromosome kartotypes were prepared,analyze the karyotype using G-banding under the microscope.Results:156 cases of abnormal karyotypes were detected in 638 cases of genetic counseling children;its detection rate was 24.45%. 118 cases of numerical chromosomal aberrations,26 cases of structural chromosomal aberrations,and 12 cases of chromosomal polymorphism accounting for 75.64%,16.67% and 7.69% in abnormal karyotype respectively.Conclusion:Chromosomal abnormality is a major cause of mental retardation,sexual development abnormalities and short stature. This should be highly emphasized by the clinicians;the diagnostic accuracy of chromosomal diseases should be improved continuously.
Objective:To discuss the relationship between chromosome abnormality and disease through having analysis of the incidence of abnormal karyotype of our hospital genetic counseling children. Methods:Chromosome samples were cultured through conventional peripheral blood lymphocyte and chromosome kartotypes were prepared,analyze the karyotype using G-banding under the microscope.Results:156 cases of abnormal karyotypes were detected in 638 cases of genetic counseling children;its detection rate was 24.45%. 118 cases of numerical chromosomal aberrations,26 cases of structural chromosomal aberrations,and 12 cases of chromosomal polymorphism accounting for 75.64%,16.67% and 7.69% in abnormal karyotype respectively.Conclusion:Chromosomal abnormality is a major cause of mental retardation,sexual development abnormalities and short stature. This should be highly emphasized by the clinicians;the diagnostic accuracy of chromosomal diseases should be improved continuously.
引文
[1]李超强,吴亚敏,黎丽芬,等.不良孕产史夫妇外周血淋巴细胞及流产物的细胞遗传学分析[J].中国优生与遗传杂志,2015,23(1):46-48.
[2]DeKretser DM. Male infertility[J]. Lancet,1997,349:787-790.
[3]刘启兰,胡娅莉,许争峰,等.江苏地区以人群为基础的唐氏综合征产前筛查和诊断研究[J].中华医学遗传学杂志,2010,27(3):340-342.
[4]Antonarakis SE,Epstein CJ. The chal lenge of Down syndrome[J].Trends in Molecular Medicine,2006,12:473-479.
[5]Practice Committee of American Society for Reproductive Medicine. Definitions of infertility and recurrent pregnancy loss:acommittee opinion[J].Fertil Steril,2013,99(1):63.
[6]Naftalovich R,Pantin EJ,Denny JT. Intraoperative aortic dissection in a Turner syndrome patient[J].Heart Lung Vessel,2015,7(3):266-267.
[7]Zhimulev IF,Beliaeva ES. Heterochromatin,gene position effect and gene silencing[J]. Genetika,2003,39(2):187-201.
[8]李根瑞,王亚萍,张卫红,等74例染色体多态性与临床效应的探究[J],中国优生与遗传杂志,2016,24(8):54-55.
[9]王桂玲,任春娥,姜爱芳.染色体多态性qh+与临床生殖异常关系的探讨[J].现代妇产科进展,2015,24(3):198-200.
[2]DeKretser DM. Male infertility[J]. Lancet,1997,349:787-790.
[3]刘启兰,胡娅莉,许争峰,等.江苏地区以人群为基础的唐氏综合征产前筛查和诊断研究[J].中华医学遗传学杂志,2010,27(3):340-342.
[4]Antonarakis SE,Epstein CJ. The chal lenge of Down syndrome[J].Trends in Molecular Medicine,2006,12:473-479.
[5]Practice Committee of American Society for Reproductive Medicine. Definitions of infertility and recurrent pregnancy loss:acommittee opinion[J].Fertil Steril,2013,99(1):63.
[6]Naftalovich R,Pantin EJ,Denny JT. Intraoperative aortic dissection in a Turner syndrome patient[J].Heart Lung Vessel,2015,7(3):266-267.
[7]Zhimulev IF,Beliaeva ES. Heterochromatin,gene position effect and gene silencing[J]. Genetika,2003,39(2):187-201.
[8]李根瑞,王亚萍,张卫红,等74例染色体多态性与临床效应的探究[J],中国优生与遗传杂志,2016,24(8):54-55.
[9]王桂玲,任春娥,姜爱芳.染色体多态性qh+与临床生殖异常关系的探讨[J].现代妇产科进展,2015,24(3):198-200.