深圳市南山区114例染色体异常患者细胞遗传学分析

Cytogenetic analysis on 114 abnormal chromosome patients in Nanshan of Shenzhen

目的探讨不良孕产史、智力低下、不孕不育等疾病的细胞遗传学原因。方法外周血淋巴细胞染色体培养,G显带,显微镜核型分析。结果1342例遗传咨询病例中,检出染色体异常核型共114例,检出率为8.49%,其中常染色体数目和结构异常79例,占69.29%,性染色体数目和结构异常18例,占15.78%,其余17例为多态,占1.18%。异常核型中,以不良孕产史所占比例最高,42.98%,智力低下及发育异常次之(35.96%)。结论染色体异常是不良孕产史和不孕不育,智力低下,多发畸形,性发育异常等疾病的重要原因之一,对此类患者进行染色体检测,有助于疾病的诊断。

Objective： To study the cytogenetics factors for abnormal gestation and birth, infertility and hypophrenia. Methods： Peripheral lymphocytes were detected by cytogenetics method for 1342 genetic counseling patients, Results： Abnormal chromosome was found in 114 patients （8.49% ）, in which the patients of autosomal aberrtion and sex chromosome aberrtion were 79 cases , 18 cases , respectively . The abnormal gestation and birth , metal retardation and infertility were 42. 98%, 35, 96%, 15.78%, respectively. Conclusion： The abnormal chromosome number or structure will result in abortion, hypophrenia, infertility and congenital malformation.