Figure 1

Array CGH profile of index case DNA. A) Whole chromosome 22 array profile is shown. Scattered plot analysis reveals a deletion in 22q22.12 (horizontal shift to left of 0). B) Zoomed-in gene view of panel A which focuses on a 5.2 Mb window within 22q22.12 containing the deletion. Each point represents a single probe. Log₂ (ratio) was plotted for all oligonucleotide probes based on their chromosome positions. Aberration calls identified by ADM-2 algorithm (coloured shaded areas) are shown.