Fig. 1
![Fig. 1](http://media.springernature.com/full/springer-static/image/art%3A10.1186%2Fs12881-016-0295-1/MediaObjects/12881_2016_295_Fig1_HTML.gif)
Example of a large exonic deletion identified in patient 6. a Lack of amplification of PCR products from exon 27 to exon 30 of the PHKA2 gene in patient 6 compared with normal control. b Multiplex PCR results using control primers for amplification of MECP2 gene exon 4 (1,061 bp) located in Xq28 and test primers for amplification of exon 26 (435 bp), exon 27 (376 bp), and exon 33 (415 bp)