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目的对9例世界首报染色体异常核型与生育异常进行临床研究探讨。方法采用人体外周血淋巴细胞及羊水细胞体外培养,进行染色体常规检查分析[1]。对2003年1月至2014年7月就诊的6442例患者,进行细胞遗传学及临床分析。结果在受检者中共检出413例染色体异常核型,异常发生率为6.41%,其中9例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;复杂重排2例;遗传自亲代的衍生染色体1例;新发的突变2例。结论染色体异常是导致育龄夫妇不孕不育、流产、死胎,婴幼儿先天畸形及智力低下等疾病的重要原因。染色体异常核型的检出,为提高出生人口素质,阐明遗传病发病机制以及基因诊断奠定坚实的基础,具有深远的意义和研究价值。
Objective To investigate the clinical research of abnormal chromosome karyotypes and fertility abnormalities in 9 cases of the world’s first reported chromosomes. Methods Human peripheral blood lymphocytes and amniotic fluid cells cultured in vitro, routine chromosomal analysis [1]. From January 2003 to July 2014, 6442 patients were treated for cytogenetics and clinical analysis. Results 413 chromosomal abnormal karyotypes were detected in the subjects, the incidence of abnormalities was 6.41%, of which 9 cases were rare chromosomal abnormalities karyotypes, which have not been reported in domestic and foreign literature. Including chromosome balance translocation in 4 cases; complex rearrangement in 2 cases; inherited from the parental derivative chromosome in 1 case; new mutations in 2 cases. Conclusion Chromosomal abnormalities are the major causes of infertility, miscarriage, stillbirth, congenital malformations and mental retardation among couples of childbearing age. Chromosome abnormalities karyotype detection, in order to improve the quality of birth population, clarify the pathogenesis of genetic diseases and genetic diagnosis and lay a solid foundation, with far-reaching significance and research value.