Figure 3 | Genetics in Medicine

Figure 3

From: Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Figure 3

Minimum size distribution of deletions and duplications identified by exon array comparative genomic hybridization. (a) Sizes of all deletions and duplications detected in 100 positive cases. The smallest deletion was 169 bp and the largest deletion was a whole-gene deletion of 317 kb. (b) Size of deletions and duplications by ranges. Forty-one percent of mutations were below 5 kb. (c) Deletions and duplications separated by number of exons affected. Note the high proportion of single- and dual-exon deletions.

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