Meiotic Segregation Analysis in Sperm of a Pericentric Inversion of Chromosome 19 Heterozygous Carrier: Assessment of Recombination Frequency and Genetic Risk

Empirical data have been obtained for the first time regarding the frequency of gametes containing recombinant chromosomes, as well as the absence of ICEs on chromosomes 13, 18, 21, X, and Y during the meiotic segregation of the PEI of chromosome 19, inv(19)(q13.3q12). It was demonstrated that the extremely low risk of recombinant chromosome formation, falling below the detectable threshold (with 95% confidence intervals), is associated with inv(19)(p13.3q12). We hypothesize that the meiotic behavior of PEIs is influenced not only by the relative size of the inverted segment but also by the morphological characteristics of the affected chromosome. Further studies are needed to explore the factors that influence the meiotic behavior of PEIs.