Fig. 2.

Map of the IC1 deletions. The human IC1 is organized in two large repetitive units each consisting of A- and B-type repeats. The positions of the CTCF target sites (CTSs), OCT-binding sites and H19 transcription start site are indicated. The extensions of the previously described deletions [5–7] are indicated by black bars, while the new case is in red. The OCT-binding site 1 was found mutated in BWS [11]. Note that the CTSs 2–3 are abolished in the ∆1.8 B6-B3 deletions, CTS4 in the ∆1.4 B5-B3 deletion and CTSs 3–5 in the ∆2.2 B5-B1 deletion, while CTSs 3–4 are lost in the novel ∆1.8 B5-B2.