FIGURE 4

(a–b) Composite oligonucleotide array CGH results analysed using Agilent Analytics 3.4 software in the mother from Family 1 (red track), the proband from Family 2 (green track) and the mother from Family 2 (blue track): (a) note the consistent relative decrease in oligonucleotide copy number of the REPD variable defensin cluster in Family 2 (green and blue tracks) opposite the relative increase in Family 1 (red track), the consistent duplications extending from REPP to REPD (red, green and blue tracks), the consistent relative decrease in oligonucleotide copy number of the REPP variable defensin cluster in Family 1 (green and blue track) opposite the relative increase in Family 2 (red track), the additional triplication proximal to REPP (large red arrow) in the mother of Family 1 (red track only) and the GATA4 introns 4–5 copy number variation (slim black arrow); (b) note the consistent deletions in the proband from Family 2 (green track) and the mother from Family 2 (blue track) in contrast with the normal copy number of the mother of Family 1 (red track). Please note also that the horizontal coloured peaks are automatically generated by the software and only approximate indicators of the extent of the duplications and deletions delineated by the individual coloured spots of relative oligonucleotide signal strength.