346762.fig.002
Figure 2: Case showing a copy number loss on the long arm terminal of chromosome 9. Representation of the chromosomal and genomic location region on chromosome 9 that has the copy number change in the Database of Genomic Variants. A loss of 1.35 Mb in size which encompasses several OMIM genes (shown in brackets) and overlaps with a DECIPHER syndrome (the 9q microdeletion syndrome- shown by the red arrow). The area is not covered by a significant number of CNVs determining that it is not polymorphic.