A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism.

ABSTRACT:

Introduction

Complex chromosomal rearrangements (CCRs) are constitutive structural aberrations involving three or more chromosomal breaks on three or more chromosomes resulting from complex events such as fork stalling and template switching, microhomology-mediated break-induced repair, or breakage-fusion-bridge cycles.

Case presentation

Here we report an 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 CCR involving five chromosomes was detected. Fluorescence in situ hybridization (FISH) analysis and chromosomal microarray analysis were done subsequently. Balanced translocations were observed between chromosomes 1, 5, 7, and 10, a balanced pa

SUBMITTER: Aynacı S 

PROVIDER: S-EPMC12052349 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature