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. 2011 Nov 9;20(3):298–304. doi: 10.1038/ejhg.2011.194

Figure 1.

Figure 1

SNP and fluorescent in-situ hybridization results of inherited chromosome 22 CNV in EA pair-I. Nexus results (Top) of the 666-Kb deletion on chromosome 22q13.3 in both individuals of EA pair-I showing a clear drop in log2 intensity signal validated by FISH (Bottom) on metaphase chromosomes of the affected EA twin-1. Probes are control: RP11-62K15 (green) and target: RP11-66M5 (red). Parental analysis (results not shown) demonstrated that this genomic event is inherited from the mother and therefore less likely pathogenic. In addition, no gene is allocated to this region neither are any miRNA transcripts hampering the identification of functional elements in this region as well.