Журнал синдрома Дауна и хромосомных аномалий
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Post Genomics: towards a Personalized Approach to Chromosome Abnormalities

Ivan Y Iourov

Regardless of organizational and attitudinal difficulties, the application of post genomic technologies in personalized medicine provides a solid basis for individual molecular diagnosis and therapy with potential therapeutic benefits for genetic counseling. Generally, these opportunities are found considerable for complex and singlegene diseases [1,2]. However, probably due to the multilateral impact of chromosome abnormalities in the genomic context, post genomic technologies have been rarely used to address chromosomal syndromes and related cases. On the other hand, high-resolution genome-wide analysis of chromosome abnormalities demonstrates the possibilities of empirical and bioinformatic post genomic technologies to represent a basis for increasing the efficiency of the diagnosis and management [3-5]. Nevertheless, there is still no consensus on the way these developments can be used in genetic counseling