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目的回顾分析染色体多态性与生殖异常临床效应的关系。方法对1908例遗传咨询者进行常规技术制备外周血淋巴细胞染色体。结果通过核型分析,1908例中检出染色体多态性变异74例,检出率3.87%(74/1908)。性染色体以男性Y染色体为主,表现为大Y的有19例,占多态染色体的比例为22.97%;小Y为32例,占多态染色体的比例为43.24%;Y染色体倒位1例,占多态染色体的比例,1.35%。常染色体多态性表现为:染色体倒位有9例(涉及到1号、3号、9号),占多态染色体的比例为12.16%;次缢痕增长(包括9和16号染色体)有7例,占多态染色体的比例,9.46%;D/G组短臂的增加或减少有6例占多态染色体的比例为8.1%。结论人类染色体多态性与不良孕产包括不孕不育、流产、死胎、生育畸形儿等相关。
Objective To analyze the relationship between chromosomal polymorphism and clinical effect of reproductive abnormalities. Methods 1908 cases of genetic counseling were routinely prepared for peripheral blood lymphocyte chromosomes. Results By karyotype analysis, 74 cases of chromosome polymorphism were detected in 1908 cases, the detection rate was 3.87% (74/1908). Sex chromosomes were mainly male Y chromosomes, showing 19 cases of large Y, accounting for 22.97% of the polymorphic chromosomes; 32 cases of small Y, accounting for 43.24% of the total; Y chromosome inversion in 1 case , Accounting for the proportion of polymorphic chromosomes, 1.35%. The autosomal polymorphism showed as follows: 9 cases of chromosome inversion (involving No. 1, No. 3 and No. 9), accounting for 12.16% of the total number of polymorphic chromosomes; the number of minor marks (including chromosomes 9 and 16) 7 cases, accounting for 9.46% of the polymorphic chromosomes; the increase / decrease of the short arm of the D / G group was found in 6 cases, accounting for 8.1% of the polymorphic chromosomes. Conclusions Human chromosome polymorphism is associated with poor motherhood, including infertility, miscarriage, stillbirth, and maternal malformation.