Ievseienkova . Molecular-cytogenetic characteristic of segmental aneusomy syndromes

The dissertation is devoted to an actual problem of clinical genetics - the definition of ways of optimization of the laboratory verification of the diagnosis of patients with the preliminary clinical diagnosis - the segmental aneusomy syndromes (SSA's). Diagnostics of SSA's is complicated by variability of both clinical attributes and cytogenetic characteristics. Early diagnostics of SSA's and allocation of patients with SSA's from all cardiological patients allow to choose adequate tactics during cardio-surgery and to in the postoperative period. It decreases a risk of complications and death rate in this group of patients. In this connection there was a necessity of studying the informative value of application of each of those methods for SSA's diagnostics. The general informative value of cytogenetic methods was 12.82%. The informative value of use of FISH-analysis was 78.2%. Application cytogenetic, molecular-cytogenetic and molecular methods has allowed to verify the diagnosis at 93.6% patientswith preliminary clinical diagnosis of SSA's. On the basis of the obtained results the algorithm of genetic laboratory diagnostics of patients with suspect on SSA's has been created.