Transcriptome Analysis as a Tool for Investigation of Pathogenesis of Chromosomal Diseases.

The aspects of transcriptional profiles of cells with chromosomal imbalance are discussed. There are certain difficulties in the assessment of phenotypic manifestations of chromosomal and genomic mutations. The data on the use of whole transcriptome analysis as an important new tool for investigation of the pathogenesis of chromosomal diseases related to aneuploidies, as well as microdeletion and microduplication syndromes, are described. The general patterns of gene expression changes in cells with chromosomal imbalance are highlighted: global dysregulation of gene expression; the similarity of transcriptional changes in cells with different aneuploidies or reciprocal copy number variations; common biological pathways and processes affected by mutations; the accumulation of transcriptional changes during ontogenesis. [ABSTRACT FROM AUTHOR]