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本文采用外周血进行淋巴细胞培养，常规制片，Ｇ 显带的方法发现８０ 例异常染色体核型，其中２１ 三体综合征（先天愚型）７５ 例，占异常染色体核型９３－７５％ ，分为２１ 三体型６８ 例，占９０－６７％ ；易位型４ 例，占５－３３％ ；嵌合型３ 例，占４％ 。本组各型比例与国内报道略有差异，可能与地区差异的局限性有关。先天性卵巢发育不全综合征３ 例，占３－７５％ ；染色体平衡易位１ 例，占１－２５％ ；３ 号染色体臂间倒位１ 例，占１－２５％ 。同时对异常染色体形成机制及影响因素进行探讨和建议。
In this paper, peripheral blood lymphocyte culture, conventional production, G-banding method found 80 cases of abnormal chromosome karyotype, including 21 trisomy syndrome (Down’s syndrome) 75 cases, accounting for 93-75% of abnormal chromosome karyotype, Divided into 21 trisomy 68 cases, accounting for 90-67%; 4 cases of translocation, accounting for 5-33%; chimerism in 3 cases, accounting for 4%. The proportion of each type of this group slightly different from the domestic coverage may be related to the limitations of regional differences. 3 cases of congenital ovarian hypoplasia syndrome, accounting for 3-75%; chromosome balance translocation in 1 case, accounting for 1 to 25%; 3 chromosome inversion in 1 case, accounting for 1 to 25%. At the same time, the mechanism and influencing factors of abnormal chromosome formation were discussed and suggested.