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本文报告从不同实验室得到的2号染色体臂间倒位的13个新病例,并复习以往文献报道的41个病例.全部病例用Weinberg的先证者法进行分析以评价携带者出生先天异常儿或发生流产的风险.一些研究报告,2号染色体的臂间倒位经常在正常个体中看到.然而发现这种倒位与智力低下、先天异常或流产有关.臂间倒位的意义可假定为①倒位片段或相邻片段上的一个或多个基因的位置效应或②减数分裂互换和交叉后倒位环重组引起异
This paper reports 13 new cases of inversions between arm 2 chromosomes obtained from different laboratories and reviews 41 cases previously reported in the literature.All cases were analyzed by Weinberg’s proband method to assess the presence of congenital anomalies Or the risk of miscarriage.A few studies have reported that the arm inversions of chromosome 2 are often seen in normal individuals.However, this inversion was found to be associated with mental retardation, congenital anomalies, or miscarriage.The significance of in-arm inversion can be assumed Is ① the positional effect of one or more genes on an inversed fragment or an adjacent fragment or ② a meiosis swap and an inversed inverted cis loop recombination result in a different