CBL mutations in the 3 cases with 11q aUPD. (A) Genotyping Console output indicating homozygous SNP calls in green, copy number state as estimated by a Hidden Markov Model in blue, and smoothed copy number log(2) ratio values in red. (B) Ideograms showing lack of large copy number changes and blocks of homozygosity at 11q. Abbreviations are as in Figure 1. (C) Sequence changes indicated by ↓ in each case compared with normal controls. UPN 2 and UPN 5 each have the c.1139T>C: L380P mutation whereas UPN 3 has c.1249C>G: P417A.