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. 2010 Jan 13;107(Suppl 1):1765–1771. doi: 10.1073/pnas.0906222107

Fig. 1.

Fig. 1.

Schematic representation of the genome architecture susceptible to rearrangements in the proximal chromosome 17p. The low copy repeats are shown in rectangles (color-coded or similar symbols for given repeats), along with the distribution of the rearrangement breakpoints. (Upper) Diverse alterations (constitutional, evolutionary, somatic) thus far documented for this region. They are color coded for matching the involved segment on 17p. The green horizontal arrow below represents the recurrent duplication and deletion causative of CMT1A and HNPP, respectively; purple horizontal arrows represent the recurrent deletion and duplication causative of SMS and PTLS (3.7 Mb) and the recurrent but uncommon deletion causative of SMS (∼5 Mb). Black arrows below represent the uncommon nonrecurrent deletions and duplications causative of SMS and PTLS, respectively. Solid black line: marker chromosome breakpoints. (Lower) Schematic representation of the isodicentric chromosome 17q, formally designated idic(17)(p11.2), generated according to the model proposed by Barbouti et al. (41) and adapted, with permission, from refs. 12 and 113.