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Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

Figure 5

Novel CNVs identified in the ID cohort.

(A) Overlapping deletions on chromosome 9p24 are shown. Deletions of this region containing DMRT1 and DMRT3 have also been associated with urogenital abnormalites and sex reversal. (B) A ∼3 Mbp deletion on 6q16 is shown encompassing SIM1. Larger deletions of this region were previously reported and have been associated with obesity. Orange bars denote deletions and gray regions are non-deleted regions from previous studies [41]. Taken together with other published studies, this deletion narrows down the critical region (dotted box) to about 2.9 Mbp.

Figure 5

doi: https://doi.org/10.1371/journal.pgen.1002334.g005