Fig. 2

Deletion/ duplication by aCGH result with heterozygous partial gene deletion (intron 12 – intron 25) of UNC13D. The targeted deletion/duplication analysis of the UNC13D gene by aCGH on the father’s sample detected a heterozygous partial gene deletion in the UNC13D gene, which is between 7.63–8.19 kb and spans exon 13 to 25. As defined by the flanking probes, the breakpoint in intron 12 is expected to be between chromosome locations [hg19] chr17:73835841–73,835,910 (highlighted by light green rectangle) and the breakpoint in intron 25 is expected to be between chromosome locations [hg19] chr17:73827722–73,828,213 (highlighted by light blue rectangle). Please note, UNC13D is located on the minus strand of chromosome 17. The locations of E12 and E25 are highlighted by red arrows