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. 2012 Mar 7;20(9):986–989. doi: 10.1038/ejhg.2012.43

Figure 2.

Figure 2

(a) MLPA result (black closed circles) and SNP array result (grey closed circles) of the 22q11.1 to 22q11.23 region in the index patient. The different syndromes, including CES, linked to this chromosomal region are displayed above. (b) Overview of the genes in the CES critical region and the locations of the BAC probes RP11-155N18 and RP11-958H20 used for FISH, together with the location of the triplicated region in the index patient and the triplication of the patient of Mears et al. Arrows within the genes indicate the transcriptional direction.