Fig. 1

A pattern of atypical deletions detected in patients with WBS. A The degree of deletion in WBS patients with typical deletions is indicated by black bars; it is approximately 1.55–1.84 Mb in size. The gray bars below represent the gene deletion fragments of WBS patients with atypical deletion, including the nine patients in this cohort and four cases of previously reported deletion genes that did not include the WBSCR distal-side genes such as GTF2I and GTF2IRD1. A panel was used to highlight the deletion region that commonly overlapped between the current study and the previous cases with a panel, and the gene symbols of interest in the candidate region are marked in red. The names of deleted genes with minimal common overlap are marked in purple. B The CMA results were verified by qPCR, and the deletion genes and chromosome loci of patients with atypical deletions (No. 6 and No. 7) were confirmed