Publication in Human Genetics

Published 29 July 2020

Chromosomal insertions are thought to be rare structural rearrangements. In this study, we sequenced 16 cases with apparent simple insertions previously identified by karyotyping and/or chromosomal microarray analysis. Additional cryptic rearrangements were identified in 68.8% of the cases (11/16). Overall, our study provide molecular characterization of karyotypically apparent simple insertions, demonstrate previously underappreciated complexities, and evidence that chromosomal insertions are likely formed by nonhomologous end joining and/or microhomology-mediated replication-based DNA repair.