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1981～1969年,我室对3788例遗传咨询门诊中疑有染色体异常者行外周血淋巴细胞染色体G显带分析,发现异常核型173例,占4.57%.染色体结构异常涉及到1至22号常染色体及X、Y性染色体.其中1种为国內首报核型,32种为世界首报核型. 本组携带者占结构异常的81.5%,与文献报道一致.根据核型分析结果,提示携带者遗传效应的最突出临床表现为自然流产、死胎死产、分娩畸形儿或易位携带者.另外,对原发性闭经也不容忽视.因此,携带者妊娠应行产前染色体诊断。
From 1981 to 1969, we analyzed the G-banding of peripheral blood lymphocytes in 3788 cases of suspected genetic abnormalities in genetic counseling clinics and found that there were 173 cases of abnormal karyotype, accounting for 4.57% .Chromosome structural abnormalities involved 1 to 22 Autosomal and X, Y sex chromosomes, one of which is the first reported karyotype and the other 32 are the world’s first reported karyotype.The carriers of this group accounted for 81.5% of the structural abnormalities, consistent with the reported in the literature.According to karyotyping results , Suggesting that the most prominent clinical manifestations of carriers of genetic effects of spontaneous abortion, stillbirth stillbirth, delivery of deformed children or translocation carriers.In addition, the primary amenorrhea can not be ignored.Therefore, carriers of pregnancy should be prenatal chromosome diagnosis .