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Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

Yurov’s Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center, 117152 Moscow, Russia
Laboratory of Molecular Cytogenetics of Neuropsychiatric Diseases, Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, 125412 Moscow, Russia
Research Centre for Medical Genetics, 115522 Moscow, Russia
Molecular & Cell Genetics Department, Pirogov Russian National Research Medical University, 117997 Moscow, Russia
Author to whom correspondence should be addressed.
Genes 2019, 10(5), 379;
Received: 18 March 2019 / Revised: 14 May 2019 / Accepted: 15 May 2019 / Published: 19 May 2019
(This article belongs to the Special Issue Chromosomal Heterogeneity and Human Diseases)
PDF [1854 KB, uploaded 19 May 2019]


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. View Full-Text
Keywords: chromosome; chromosome heterogeneity; genomic variations; somatic mosaicism; chromosomal instability; genome instability; aneuploidy chromosome; chromosome heterogeneity; genomic variations; somatic mosaicism; chromosomal instability; genome instability; aneuploidy

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Iourov, I.Y.; Vorsanova, S.G.; Yurov, Y.B.; Kutsev, S.I. Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism. Genes 2019, 10, 379.

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