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. 2012 Nov 28;21(7):743–748. doi: 10.1038/ejhg.2012.240

Figure 2.

Figure 2

(a) Array CGH profile of chromosome 2 indicating a heterozygous interstitial deletion in 2q37.3 (hg18 position chr2:239,395,957-240,154,599 bp) as shown by CGH Analytics 3.4.40 software. Note the magnification box, the deleted region (blue bars) encompasses HDAC4, FLJ43879 and TWIST2 (*gene symbol added according to UCSC hg18 NCBI36/Version Mar 2006). (b) FISH analysis confirming the 2q37.3 deletion in lymphocytic chromosomes of the index patient's grandmother. Note, there is only one hybridization signal of the 2q37.3 locus-specific RP11-546M8 probe (red) on one of the chromosomes 2 (control probe RP11-27O22 labelled in green). The aberrant chromosome 2 is marked by an arrow.