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目的分析遗传咨询门诊中有流产、胚胎停育、死胎、胎儿畸形、不孕不育等生殖异常患者染色体多态性的情况。方法对482例有流产、胚胎停育、死胎、胎儿畸形、不孕不育等生殖异常史患者行外周血淋巴细胞培养,常规G显带,必要时行C显带后染色体核型分析。结果 2014年1月至2015年6月482例就诊者中,检出染色体多态56例,阳性率为11.6%。涉及的染色体包括D/G组随体增加、减少、1号、9号及16号次缢痕的加长或缩短、9号臂间倒位、Y染色体长臂异染质区变化。结论染色体多态性与流产、胚胎停育、死胎、胎儿畸形、不孕不育等导致生殖异常有一定的相关性。
Objective To analyze the genetic polymorphisms of patients with genital abnormalities such as miscarriage, embryo stop, stillbirth, fetal malformation and infertility in genetic counseling clinic. Methods 482 cases of abortion, embryo stop, stillbirth, fetal malformation, infertility and other reproductive abnormalities in patients with peripheral blood lymphocyte culture, conventional G banding, if necessary, C banding karyotype analysis. Results From January 2014 to June 2015 in 482 cases, 56 cases of chromosomal polymorphisms were detected, the positive rate was 11.6%. Chromosomes involved, including D / G group with the body increased, decreased, No. 1, No. 9 and No. 16 times the indentation of the longer or shortened, internode inversion in 9, Y chromosome long arm in the change of the heterogeneous area. Conclusion Chromosomal polymorphism has some correlation with genital abnormalities such as abortion, embryo stop, stillbirth, fetal malformation and infertility.