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目的：研究人类染色体臂间倒位的遗传效应，分析染色臂间倒位与不育、流产和畸胎的关系．方法：常规取外周血淋巴细胞培养制备染色体Ｇ显带标本，按人类细胞遗传学国际命名体制（ＩＳＣＮ）进行核型分析．结果：染色体臂间倒位在受检的２８７２人中，检出２９例，计有ｉｎｖ（９）２６例、ｉｎｖ（８）（ｐ１１．２ｑ２４．３）１例、ｉｎｖ（３）（ｐ２５ｑ２１）１例、ｉｎｖ（１）（ｐ３６ｑ２５）１例，其中ｉｎｖ（１）（ｐ３６ｑ２５）为世界首报核型．结论：ｉｎｖ（９）本身不具有病理学意义，而其它染色体臂间倒位与不育、流产和畸胎有关。
OBJECTIVE: To study the genetic effect of human inversions between arms and to analyze the relationship between the inversion of stained arms and infertility, miscarriage and teratology. Methods: Chromosomal G banding samples were routinely prepared from peripheral blood lymphocytes and analyzed for karyotype according to the International Nomenclature System of Human Cytogenetics (ISCN). Results: There were 29 cases of 2872 inversions among the 2872 subjects examined, including inv (9) 26, inv (8) (p11.2q24.3), inv (3) (p25q21) 1 case, inv (1) (p36q25) in 1 case, of which inv (1) (p36q25) was the world’s first reported karyotype. CONCLUSIONS: Inv (9) does not have pathological significance by itself, whereas other arm inversions are associated with infertility, miscarriage and teratogenicity.