连云港地区1752例遗传咨询者外周血染色体核型分析

The karyotypes analysis of peripheral blood cells in 1752 cases of genetic consultants in Lianyungang Region

目的分析连云港地区1752例外周血染色体核型结果,探讨染色体异常核型在各个临床指征下发生的频率、类型及其之间的关系。方法抽取1752例因不良孕产史、不孕不育、原发闭经、生长发育异常、羊水染色体诊断异常而就诊的患者外周血进行淋巴细胞的培养,G显带后进行核型分析。结果 1752例患者检出染色体核型异常116例,异常检出率为6.62%;其中866例不良孕产史患者检出异常核型23例(2.66%);728例不孕不育患者检出异常核型27例(3.71%);15例原发闭经或月经紊乱患者检出异常核型2例(13.33%);89例生长发育异常患者检出异常核型41例(46.07%);因羊水染色体诊断异常就诊的32对夫妇,检出携带异常核型的夫妇23对(71.88%)。结论染色体异常在不良孕产史、不孕不育、原发闭经、生长发育异常以及羊水染色体产前诊断结果异常的患者中占有一定的比例,对该类患者进行染色体核型分析在临床诊断中具有重要的意义。

Objective：To investigate the relationships between abnormal chromosome and their clinical manifestations. Methods：The G-banding patterns of the chromosomes in 1752 persons with abnormal pregnancy history,infertility,primary amenorrhea,growth abnormality and abnormal result of prenatal diagnosis. Results：In 1752 cases,866 cases were abnormal pregnancy history and the detection rate of chromosome abnormality was 2.66%（23 cases）;728 cases were infertility and the rate was 3.71%（27 cases）;15 cases were primary amenorrhea and the rate was 13.33%（2 cases）;89 cases were growth abnormality and the rate was 46.07%（41 cases）;32 couples with abnormal result of prenatal diagnosis,and the rate was 71.88%（23 couples）. The total number of abnormal karyotype cases was 116 and the rate was 6.62%. Conclusion：The abnormal chromosome may causes abnormal pregnancy history,infertility,primary amenorrhea,growth abnormality and abnormal result of prenatal diagnosis. So the karyotype analysis of peripheral blood has important significant for the clinical diagnosis.