Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes
Figure 1
Recurrent Rearrangements in Proximal 17p
The horizontal line represents proximal 17p with the telomere (TEL) to the left, the centromere (circle) to the right, and LCRs demarcated. The genomic regions duplicated in CMT1A (green horizontal rectangle) and deleted in HNPP (red horizontal rectangle) are shown above, and the recurrent deletions associated with SMS and duplication associated with dup(17)(p11.2p11.2) are shown below. The position of the isochromosome 17q breakpoint cluster region within a large cruciform structure (consisting of five subunits of ~40–50 kb each) is also shown.