摘要
目的 探讨染色体核型分析在优生遗传咨询中的意义。方法 对洛阳地区 2 0 6 5例遗传咨询者 ,取外周血淋巴细胞培养 ,常规制片G显带 ,进行染色体核型分析。结果 染色体核型正常 185 1例 ,发现异常核型 2 14例 ,异常检出率为10 .36 %。异常核型涉及到三体型、单体型、罗伯逊易位、相互易位、不平衡重排等。异常核型中 ,不良孕产史为 89例 ,智力低下 91例 ,原发闭经 14例 ,性征发育异常及其他为 30例。结论 染色体核型分析对不良孕产史、智力低下、原发闭经、性征发育不良等疾病的诊断具有重要意义。对于明确染色体结构及数目异常者 ,应行产前诊断 ,避免患儿出生。
Objective: To study the mearning of the karyotype analysis in genetic counseling. Method: Blood samples from 2065 patients were regular cultured, proceeding, G-banding and analysed. Results: 1851 patients of them are normal; 214 patients are abnormal(10.36%). The abnormal is concerned in trisomy, monosomy, Robertsonian translocation, reciprocal translocation and rearrange. In abnormal karyotype, 89 patients are abnormal childbearing, 91 patients are Down's syndrome. 14 patiens are original amenorrhea and 30 patients are sexual abnormality. Conclusion: Karyotype analysis is important for the disease diagnosis of abnormal childbearing . Down's syndrome, original amenorrhea and sexcual abnormality. We should take the prenatal diagnosis for the patients with chromosomal anomaly, and improve the rate of normal newborns.
出处
《中国优生与遗传杂志》
2003年第6期62-63,共2页
Chinese Journal of Birth Health & Heredity
