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First page of A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism

Introduction: Complex chromosomal rearrangements (CCRs) are constitutive structural aberrations involving three or more chromosomal breaks on three or more chromosomes resulting of complex events such as fork stalling and template switching, microhomology-mediated break-induced repair, or breakage-fusion-bridge cycles. Case Presentation: Here we report 11-year-old female that was referred to our outpatient clinics for learning disability and dysmorphic features. Due to clinical findings; karyotype analysis was done initially and a complex chromosomal rearrangement involving five chromosomes were detected. FISH analysis and chromosomal microarray analysis were done subsequently. Balanced translocations were observed in between chromosomes 1, 5, 7 and 10, a balanced paracentric inversion of chromosome 2, and two interstitial deletions at the long arm of the chromosome 5. Optical genome mapping was done to further investigate molecular mechanisms of this exceptional CCR and a paracentric inversion that probably caused interstitial deletions were detected at chromosome 5. Conclusion: Molecular cytogenetic techniques, such as microarray and FISH, are essential for detecting copy-number variations at complex chromosomal rearrangements that appear to be balanced. Nonetheless, optical genome mapping enhances the resolution offering a valuable complement to traditional cytogenetic techniques to investigate the molecular mechanisms responsible for formation of the CCRs.

Journal Section:
Novel Insights from Clinical Practice
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S. Karger AG, Basel
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2025
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