Figure 2: Syber Green RT-PCR. Real time PCR amplification of exon 18 and exon 19 in UPN 904, in her mother and in a normal control revealed biallelic loss of the genomic region spanning exons 18-19 in the patient while her mother showed a relative quantification suggestive for heterozygous loss of this region (ΔΔCt=0.58 for exon 18, ΔΔCt=0.37 for exon 19).