Akademik Veri Yönetim Sistemi
Bratislava Medical Journal, 2026 (SCI-Expanded, Scopus)
Introduction: Structural variants (SVs) are genomic rearrangements ≥ 50 bp that alter copy number, orientation, or chromosomal location, and complex chromosomal rearrangements (CCRs) represent a rare SV subset characterized by three or more chromosomal breakpoints, often involving multiple chromosomes. Aim of the study: To evaluate the diagnostic utility of an integrated cytogenomic workflow in characterizing rare SVs and CCRs within a tertiary genetic center cohort. Results: In this study, a retrospective case series from a diagnostic cohort of 7508 individuals who applied to our center were reviewed. We identified four cases where standard single-modality testing was insufficient. The integration of karyotyping, FISH, CMA, and Optical Genome Mapping (OGM) allowed for the step-by-step resolution of complex puzzles, including a possible chromoanagenesis-related ring 18, a technically elusive ATAD3 deletion, an intrachromosomal CCR and one with a rare sex chromosomal rearrangement detected incidentally. Conclusion: All four patients presented with genomic variants that could not be fully resolved using a single routine diagnostic approach. The integrated use of cytogenetics technologies remains essential for the accurate diagnosis and interpretation of complex genomic variation in clinical practice.