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目的对5例世界首报异常染色体核型遗传效应进行探讨和分析。方法对2015年1月至12月来我院就诊的患有不孕不育、流产和生育异常疾病374例患者,进行外周血染色体核型分析。结果在受检者中共检出27例染色体异常核型,异常发生率为7.2%,其中5例为罕见染色体异常核型,经检索国内外文献未见报道;包括染色体平衡易位4例,臂间倒位1例。结论染色体异常是导致患者不孕不育、流产和生育异常疾病的重要原因。染色体异常核型的检出,对阐明罕见染色体病发病机制以及优生优育的临床指导具有重要意义。
Objective To investigate and analyze the genetic effects of abnormal chromosomes in 5 cases reported in the world. Methods A total of 374 patients with infertility, miscarriage and maternal abnormalities who visited our hospital from January to December in 2015 were analyzed for karyotype of peripheral blood. Results Twenty-seven cases of chromosomal abnormalities were detected in the subjects, the incidence of abnormalities was 7.2%, of which 5 cases were rare karyotypes. There were no reports from domestic and foreign literatures about the karyotypes, including 4 cases of chromosomal equilibrium translocation Inverted between 1 case. Conclusion Chromosomal abnormalities are the major causes of infertility, miscarriage and abnormal fertility in patients. Chromosome abnormalities karyotype detection, the elucidation of the pathogenesis of rare chromosomal diseases and the clinical guidance of prenatal and postnatal care is of great significance.