Fig. 1

Pherograms corresponding to the electrophoresis of the multiplex ligation-dependent probe amplification assay (a: mother; b: proband; c: control sample). The first two peaks (arrows) represent annealing of the CLDN16 probes to the genomic DNA. The last two peaks are the two control probes. Notice the two first peaks in the control sample (c), the absence of these peaks in the proband (b), and half of the peak height in the mother (a). The control probes remained constant in all samples