Chromosomal microarray analysis is the state-of-the-art of clinical cytogenetics, providing efficient and high-resolution diagnostics of unbalanced chromosomal rearrangements. Current recommendations define the indications for chromosomal microarray analysis in postnatal and prenatal diagnostics of constitutive chromosomal anomalies. Approaches to interpretation of the clinical significance of detected chromosomal variants, as well as genetic counseling for families of patients with chromosomal diseases are discussed. Emphasis is given to the priority of expert opinion and collaboration between molecular cytogeneticist and clinical geneticist in assessing the pathogenetic significance of chromosomal variants and the strategy for subsequent laboratory examination of the patient.

The article presents the results of a comprehensive anthropogenetic analysis of the group of modern “Italians of Crimea”, who are descendants of Italian migrants from the Apennine Peninsula from the late 18th – early 20th centuries. The genetic study is based on the analysis of genotype and allele prevalence of seven autosomal polymorphic genes (PAH, TH01, NOS3, SLC6A3, CCR5, ACE, FABP2) among the Italians of Crimea and comparison of their frequencies with the world distribution to determine the genetic characteristics of the studied group and its position in the space of other world populations. According to the data of five markers, the descendants of Italians are closer to European populations and closest to Russians, which indicates the degree of mestizatisation of this group, as well as a high level of heterozygosity. According to the calculated distances for FABP2, PAH, TH01, they gravitate to the historical ancestral population of Italians of Italy, but it is not possible to determine the territorial origin. The analysis of the surnames of “Italians of Crimea” and their ancestors as reliable quasi-genetic markers showed that the majority of migrants (52.53%) were of northern origin, 27.72% of migrants originated from the southern regions of the Apennine Peninsula, and 19.75% from the central region of Italy. The transformations that the original surnames of Italian migrants underwent over time reflect the complex process of adaptation of Italian groups in the Black Sea-Azov region. The results of the study add to the knowledge on the ethnic genomics of Italians.