Figure 2

Heterozygous deletion of exon 1 of CDKL5 and neighboring genes (patient 27) is identified more reliably and accurately by CGH array compared with MLPA. (a) MLPA showing a reduction of the peak corresponding to CDKL5 exon 1 among CDKL5 exonic probe and control probe peaks. (b) Detection by genomic CGH array of a 294 kb deletion on chromosome X from intron 1 of the CDKL5 gene to the SCML2 and CXorf20 neighboring genes.