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. 2013 Apr 19;110(19):7790–7795. doi: 10.1073/pnas.1216412110

Fig. 2.

Fig. 2.

SOMA identified a 386-kb duplication of chromosome 6, and FISH revealed its insertion on the X chromosome. (A) SOMA performed on an affected individual using the Affymetrix Cytogenetics Whole-Genome 2.7M array revealed a 386-kb duplication of chromosome 6p21.2 encompassing the KIF6 and DAAM2 genes (as shown in C). (B) FISH on control and carrier metaphase chromosomes revealed the insertion of the chromosome 6 duplication onto the X chromosome at the cytogenetic level. Boxes indicate X chromosomes, white arrows indicate chromosome 6, and the red arrow indicates the X chromosome containing the insertion. Insets are magnified images of the unaffected and affected X chromosome from control and carrier individuals, respectively. (C) Nonoverlapping BAC clones used to span the chromosome 6 duplication include the KIF6 and DAAM2 genes (drawn to scale). Genomic coordinates reference the UCSC Genome Browser human reference genome build hg19.