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- W2945172607 endingPage "379" @default.
- W2945172607 startingPage "379" @default.
- W2945172607 abstract "Intercellular karyotypic variability has been a focus of genetic research for more than 50 years. It has been repeatedly shown that chromosome heterogeneity manifesting as chromosomal mosaicism is associated with a variety of human diseases. Due to the ability of changing dynamically throughout the ontogeny, chromosomal mosaicism may mediate genome/chromosome instability and intercellular diversity in health and disease in a bottleneck fashion. However, the ubiquity of negligibly small populations of cells with abnormal karyotypes results in difficulties of the interpretation and detection, which may be nonetheless solved by post-genomic cytogenomic technologies. In the post-genomic era, it has become possible to uncover molecular and cellular pathways to genome/chromosome instability (chromosomal mosaicism or heterogeneity) using advanced whole-genome scanning technologies and bioinformatic tools. Furthermore, the opportunities to determine the effect of chromosomal abnormalities on the cellular phenotype seem to be useful for uncovering the intrinsic consequences of chromosomal mosaicism. Accordingly, a post-genomic review of chromosomal mosaicism in the ontogenetic and pathogenetic contexts appears to be required. Here, we review chromosomal mosaicism in its widest sense and discuss further directions of cyto(post)genomic research dedicated to chromosomal heterogeneity." @default.
- W2945172607 created "2019-05-29" @default.
- W2945172607 creator A5054875291 @default.
- W2945172607 creator A5055554212 @default.
- W2945172607 creator A5056727661 @default.
- W2945172607 creator A5086121932 @default.
- W2945172607 date "2019-05-19" @default.
- W2945172607 modified "2023-10-13" @default.
- W2945172607 title "Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism" @default.
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