荆州地区遗传咨询患者染色体异常的20年回顾

Genetic counseling people chromosomal abnormality frequency of Jinzhou area for twenty years.

目的 通过2 0年工作回顾,探讨具有智力低下、性发育异常、原发性闭经以及不良孕产史患者染色体异常发生率和意义。方法 染色体制备采用淋巴细胞培养,应用G、C等显带技术进行细胞遗传学分析。结果 12 2 0例遗传咨询患者染色体异常检出率为10 .4 9% ,其中:12 2例智力低下患者,检出异常核型5 7例,异常率为4 6 .72 % ;12 3例性发育异常患者,检出异常核型36例,异常率为2 9.2 7% ;6 5例原发性闭经患者,检出异常核型18例,异常率为2 7.6 9% ;4 0 5对不良孕产史夫妇,共检出异常核型17例,女12例,男5例,其中夫妻双方均检出异常核型者2例,异常率为1.87%。结论 在基层医院开展染色体分析十分必要,对于遗传咨询患者的诊断和治疗具有重要意义。

Objective:To investigate the frequency and significance of chromosome abnormality in feeble mindedness,cacoethic obstetrical history,sexual development abnormity and primary amenorrhea.Methods: The chromosomes were obtained by culturing of peripheral blood lympha cell and analyed under microscope after G-banding and C-banding.Results:The chromosome abnormality frequency is 10.49% in 1220 genetic counseling peoples;include 57 abnormal karyotypes in 122 feeble mindednesses(46.72%);36 abnormal karyotypes in 123 sexual development abnormities (29.27%);18 abnormal karyotypes in 65 pnmary amenorrheas(27.69%);17 abnormal karyotypes in 405 cacoethic obstetrical history couples(1.87%).Conclusion: It's necessary to examine the chromosome in fundamental hospital and importance for the diagnosis and treatment.