Figure 3

Molecular karyotyping was performed by array-CGH on the proband’s DNA using an Agilent 44 K array platform with a resolution of approximately 100 kb. Based on the physical mapping positions of the March 2006 Assembly (NCBI36/hg18) of the UCSC Genome Browser, this analysis showed a duplication of approximately 34 Mb that involved the 9p24.3-p13.3 region, with the breakpoint falling between 601,628 bp (first duplicated oligomer) and 34,638,095 bp (last duplicated oligomer).