Figure 3.

Confirmatory array CGH analysis. To verify the c.1833delT deletion in the SLC12A1 gene, the DNA sample from the proband was subject to array CGH analysis. In the confirmatory array CGH, one probe located between exons 14 and 15 of SLC12A1 (indicated by the black arrow in the plot) demonstrated the presence of a deletion in this region, whereas the other probes were observed in the normal base line. The red dots indicate the proband sample DNA; the blue dots indicate the normal control DNA. CGH, comparative genomic hybridization; SLC12A1, solute carrier family 12 member 1.