5774例临床生育不良者异常染色体核型分析及32种人类染色体新核型报告

Analysis of the chromosomal abnormality in 5774 patients with clinical reproductive abnormality and 32 new karyotypes

为了探讨异常染色体核型在临床生育不良人群中的分布及其与临床生育结局的关系,采用常规方法制备外周血淋巴细胞染色体,经G显带,对5774例临床生育不良者做了外周血染色体核型分析,检查出异常核型550例。其中三体核型255例占46.36%,相互易位91例占16.55%,染色体倒位85例占15.45%,染色体缺失81例占14.73%,罗伯逊易位21例占3.82%,短臂增加7例占1.27%,大丫6例占1.09%,随体异常4例占0.73%。其中32例为首次报道的新核型。其临床结局有流产、不育、先天畸形等。结果表明携带异常核型染色体,可能是影响生育的重要原因之一。

To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lymphocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases （46.36%） were trisomy, 91 cases （16.55%） were reciprocal translocation, 85 cases （15.45%） were chromosomal inversion, 81 cases （14.73%） were deletions, 21 cases （3.82%） were Robertsonian translocation, 7 cases （1.27%） were short arm increment, 6 cases （1.09%） were Y chromosome increment and 4 cases （0.73%） were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.