Characterization of genomic imbalance in patients with balanced chromosomal rearrangements and abnormal phenotypes

M. E. Minzhenkova; Z. G. Markova; D. M. Guseva; T. V. Markova; N. A. Demina; N. A. Semenova; L. A. Bessonova; T. A. Vasilyeva; E. L. Dadali; N. V. Shilova

Characterization of genomic imbalance in patients with balanced chromosomal rearrangements and abnormal phenotypes

M. E. Minzhenkova, Z. G. Markova, D. M. Guseva, T. V. Markova, N. A. Demina, N. A. Semenova, L. A. Bessonova, T. A. Vasilyeva, E. L. Dadali, N. V. Shilova

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Abstract

Identification of genomic imbalances in cases with balanced chromosomal rearrangements and abnormal phenotype is a current trends in cytogenetics practice, requiring the development of unique approach using modern molecular genetic technologies. The aim of this study is diagnostics etiologies of the abnormal phenotype in patients with balanced chromosomal rearrangements. We report the investigations results of 20 patients with abnormal phenotype and balanced chromosomal rearrangements by conventional cytogenetic analysis. Genomic imbalances by microarray studies detected in 13 of 20 cases (65%). Most of CNVs was microdeletion or microduplication at a rearrangement breakpoint (69.2%) and 20.8% microdeletion/microduplication in other chromosomes.