Figure 1: Karyotype and chromosome 3 ideogram of the proband. Panel A shows the karyotype of the proband, 46,XY,rec(3)dup(3q)inv(3)(p26.3q23)mat.arr 3p26.3(56,669-1,850,707)x1,3q23q29(141,829,104-199,355,203)x3. Panel B shows the normal and derivative chromosomes 3, together with an associated ideogram. Panel C is a summary ideogram of the regions of chromosome 3 that are duplicated and deleted in the proband.