346762.fig.001
Figure 1: Case showing a copy number gain on the short arm of chromosome 5 inherited from the healthy father and a de novo copy number loss on the long arm of chromosome 15. Representation of the chromosomal and genomic location region on chromosome 15 that has the copy number change in the Database of Genomic Variants. A loss of 2.4 Mb in size, which encompasses several RefSeq genes (shown in brackets); the region is not covered by any CNVs determining that it is not polymorphic.