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Gene map of region Xp21 on human X chromosome.
The black box corresponds to the Xp21 contiguous gene deletion syndrome region, which includes twenty-three genes. The deletion identified in our proband can be visualized in the red box, which involves a region of 3.7 Mb (chrX:30,623,289-34,345,080) and encompasses DMD and GK genes. OMIM genes are in bold.
