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目的分析厦门地区734例遗传咨询患者的染色体核型。方法对前来遗传咨询的734例患者进行外周血淋巴细胞培养,G显带进行核型分析。结果 734例患者中查出染色体异常的核型97例,异常检出率为13.22%。染色体数目异常45例(46.39%),结构异常51例(52.58%)。结论染色体异常是导致智力低下、不良孕产史、原(继)发闭经、无精症、性发育异常的重要原因之一。对疑是染色体病的遗传咨询者进行染色体检查必不可少。
Objective To analyze the karyotypes of 734 cases of genetic counseling in Xiamen area. Methods Peripheral blood lymphocytes were cultured in 734 patients who came for genetic counseling. K - banding was performed for karyotype analysis. Results Among the 734 cases, 97 karyotypes were found with chromosomal abnormalities, with an abnormality rate of 13.22%. The number of chromosome abnormalities in 45 cases (46.39%), structural abnormalities in 51 cases (52.58%). Conclusion Chromosomal abnormalities are one of the most important causes of mental retardation, poor history of pregnancy and childbirth, primary and secondary amenorrhea, azoospermia and sexual dysplasia. Chromosomal examination of genetic counselors suspected of having chromosomal disease is essential.