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目的探讨大Y染色体与男性生育和不良妊娠之间的关系以及临床意义。方法常规制备外周血淋巴细胞染色体G显带标本,对516对不良生育史夫妇进行染色体核型分析。结果 516对夫妇共检出异常核型178例,男性异常核型83例,其中大Y染色体携带者51例,大Y染色体的检出率为4.94%(51/1032),占异常核型的28.65%(51/178),占男性异常核型的61.45%(51/83)。妻子习惯性流产者34例,占66.67%(34/51),生育智力低下儿7例,占13.73%(7/51),其妻生育畸形儿5例,占9.80%(5/51),妻有死胎史4例,占7.84%(4/51),无精子症1例,占1.96%(1/51)。结论大Y染色体影响生育,与不良妊娠有关,具有一定的遗传效应和临床意义。
Objective To investigate the relationship between the large Y chromosome and male fertility and adverse pregnancy and its clinical significance. Methods Chromosomal G banding samples of peripheral blood lymphocytes were routinely prepared, and 516 karyotypes were analyzed. Results A total of 516 couples detected abnormal karyotypes in 178 cases and 83 cases of male abnormal karyotypes. Among them, 51 cases had large Y chromosome carriers and the detection rate of large Y chromosome was 4.94% (51/1032) 28.65% (51/178), accounting for 61.45% (51/83) of the abnormal male karyotypes. There were 34 cases of habitual abortion in his wife, accounting for 66.67% (34/51), 7 cases (13.73%) having low fertility, 5 (5/51) 4 cases had a history of stillbirth, accounting for 7.84% (4/51) and 1 without azoospermia (1.96%, 1/51). Conclusion The large Y chromosome affects fertility and is related to adverse pregnancy, which has some genetic effects and clinical significance.