Turleau C, Chavin-Colin F, de Grouchy J
Eur J Obstet Gynecol Reprod Biol. 1979 Apr;9(2):65-74. doi: 10.1016/0028-2243(79)90001-7.
413 couples with one or more spontaneous miscarriages were karyotyped. Observed chromosomal rearrangements were classified as major rearrangements, i.e. Robertsonian and reciprocal translocations, pericentric and paracentric inversions, supernumerary small metacentrics, and minor rearrangements, i.e. pericentric inversions of chromosome 9, and constitutional fragility of particular chromosome sites. 2.30% of the individuals were carriers of a major rearrangement, which represents a ten-fold increase when compared to the general population. The contribution of each type of rearrangement is unequal, the most important being pericentric inversions (36 times more frequent than in the general population). Contrary to data from the literature, the probability of finding a rearrangement does not seem to increase with the number of miscarriages.
对413对有一次或多次自然流产史的夫妇进行了染色体核型分析。观察到的染色体重排被分为主要重排，即罗伯逊易位和相互易位、臂间倒位和臂内倒位、额外的小中着丝粒染色体，以及次要重排，即9号染色体臂间倒位和特定染色体位点的结构脆性。2.30%的个体是主要重排的携带者，与普通人群相比增加了10倍。每种重排类型的贡献并不相同，其中最重要的是臂间倒位（比普通人群频繁36倍）。与文献数据相反，发现重排的概率似乎并不随流产次数的增加而增加。
