Fig. 1
From: Charcot-Marie-Tooth Disease: Lessons in Genetic Mechanisms
Chromosomal syndrome versus Mendelian disorders. In the middle of the figure the G-banded ideogram for the short arm of chromosome 17-17p is shown; to the left are cytogenetically visible chromosomal DNA rearrangements, while to the right are submicroscopic rearrangements. Bold vertical rectangles represent the 17p region duplicated (top left), open vertical rectangles show the region deleted (bottom left). Shown to the right of the karyogram is an expansion of the submicroscopic 17pl2 region with the PMP22 gene (hatched box) flanked by CMT1A-REP repeats (closed box). The region duplicated is shown by a bold vertical line (top right) whereas that deleted is shown by a dashed vertical line (bottom right). The asterisk represents the point mutation in PMP22 that can be associated with HNPP.