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. Author manuscript; available in PMC: 2017 Jul 19.
Published in final edited form as: Am J Med Genet A. 2013 Jun 27;161A(8):1833–1852. doi: 10.1002/ajmg.a.35996

Figure 11.

Figure 11

Map of chromosome 17p13.3 shows possible critical regions for rare abnormalities including cleft lip and palate (CLP) in blue, split hand/foot with long bone deficiency (SHFLD) in purple, and marfanoid habitus in red. The rearrangements associated with CLP and SHFLD suggest a more complex mechanism than simple duplication, as explained in the text. All three dups associated with CLP have one breakpoint located within the ABR gene. All 4 dups associated with SHFLD shown here as well as 16/17 additional dups associated with SHFLD from another recent report [Klopocki et al., 2012] have one breakpoint located within or between the ABR and TUSC5 genes, suggesting disruption of regulatory elements.