染色体内断片的位置变动,一般不引起表型异常,除非涉及遗传物质的获得或丧失,导致基因组不平衡。Jacobs 和 Tharapel 等观察到有明显染色体平衡重排的人智力落后和多发性先天异常的发生率增加,但多涉及新生结构重排,我们近来发现 Chromosome changes in the location of fragments generally do not cause phenotypic abnormalities, unless involving the acquisition or loss of genetic material, resulting in imbalance in the genome. Jacobs and Tharapel et al observed an increased incidence of recurrent mental retardation and multiple congenital anomalies with overt chromosomal rearrangements, but mostly involved in nascent remodeling, and we recently found