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Black lines represent the regions deleted in WBS patients. A: common ∼1.5/1.6 Mb deletion; B: ∼1.8 Mb deletion; C: patient WBS245; D: patient WBS023I; E: partial deletion patients with only isolated SVAS and associated cardiac pathologies[22], [23]. Shaded boxes represent the B-block flanking duplicons containing the deletion breakpoints (Bc = centromeric; Bm = medial; Bt = telomeric). Not to scale.
