Mechanisms for Complex Chromosomal Insertions

We identified 16 individuals with complex insertions among 56,000 individuals tested at Baylor Genetics Laboratories using clinical array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH). Custom high-density aCGH was performed on individuals with available DNA, and breakpoint junctions were fine-mapped at nucleotide resolution by long-range PCR and DNA sequencing to glean insights into potential mechanisms of formation. Seven individuals with complex chromosomal insertions were subjected to custom high-density arrays in the targeted regions.