A small family cohort was identified in which a CGR involving chr 9p24.1 occurred in two carriers, one with a diagnosis of schizoaffective disorder (DL3363, proband) and one with a diagnosis of bipolar disorder with psychotic features (DL5459, mother) (Figure 1); there were also two clinically unaffected non-carrier relatives (full brother and maternal half-sister of the proband) (Figure 1C). This 9p24.1 CGR is constituted by a duplication (DUP) of 1.18 Mb (comprising 12 genes) followed by a triplicated (TRP) segment of 0.672 Mb (comprising three genes: UHRF2, GLDC, and part of KDM4C) (Figure 1A). Originally identified by array comparative genomic hybridization (aCGH) (Malhotra et al., 2011), it was more fully characterized by custom high-resolution aCGH as a CGR involving 9p24.1 (Figure 1B) (unpublished data).
