Lebedev I
Institute of Medical Genetics, Siberian Branch of Russian Academy of Medical Sciences, Tomsk, Russia.
Cytogenet Genome Res. 2011;133(2-4):169-83. doi: 10.1159/000324120. Epub 2011 Feb 9.
Chromosomal mosaicism is the presence of 2 or more cell lines with different karyotypes in the same individual. Mosaic karyotypes are a remarkable feature of early stages of human embryo development. They result from mitotic errors in chromosome segregation and demonstrate the clearest example of somatic mutagenesis in human beings. This review is devoted to the classification of chromosomal mosaicism and the analysis of its underlying mechanisms, incidence and phenotypic effects during embryo development. A model for tissue-specific aneuploid cell line compartmentalization in spontaneous abortions is introduced.
染色体嵌合体是指同一个体中存在两种或更多具有不同核型的细胞系。嵌合核型是人类胚胎发育早期阶段的一个显著特征。它们源于染色体分离过程中的有丝分裂错误,是人类体细胞诱变最明显的例子。本综述致力于染色体嵌合体的分类及其在胚胎发育过程中的潜在机制、发生率和表型效应分析。介绍了自然流产中组织特异性非整倍体细胞系分隔的模型。