De novo complex chromosomal rearrangement in region 2q32q35

Abstract

Complex chromosomal rearrangements are rare events involving three or more cytogenetic breaks, generally on two or more chromosomes.If breakpoints are localized and show lack of homology, they are most likely formed by the mechanism called chromothripsis.Chromothripsis is a single catastrophic event where a part or an entire chromosome, or few chromosomes are fragmentedinto multiple pieces and reassembled in a random order. Here we report on a 5.5-year-old boy with characteristicdysmorphism, cleft palate, dental anomaly, patent ductus arteriosus, feeding diffi culties and global developmental delay. Conventionalcytogenetic analysis and chromosomal microarray analysis revealed complex chromosomal rearrangement in region2q32q35. The boy was diagnosed with Glass syndrome, based on clinical phenotypic features and results of genetic analysis. Consideringthe localization of rearrangements, the mechanism of origin could be chromothripsis. To confi rm the mechanism, additionalresearch with next-generation sequencing methods is required.Key words: chromosomal rearrangements; chromothripsis; chromosomal microarray; Glass syndrome