Figure 2.

(A) β allele frequencies (Baf) for all SNPs on chromosome 11 are shown (value for genotype AA: 0, AB: 0.5, and BB 1.0). From the top the results are shown of the father of propositus 1, carrier of β cd39, the propositus 1 having the segmental paternal uniparental isodisomy of approx. 47.7Mb in an estimated mosaicism of 65%, and the mother of propositus 1, who is completely normal. Propositus 3 and 2 show a similar segmental isodisomy as propositus 1 of almost the entire short arm of chromosome 11 (approx. 47.2 and 48.9 Mb, respectively), with different percentage of mosaicism (70% and 80%, respectively). Patients showed normal SNP intensity values across 11p, precluding the possibility that deletion events cause the deviating Baf pattern. (B) The Identity-By-State (IBS) per SNP between propositus 1 and each parent plotted by physical position on chromosome 11. The number of SNPs per IBS value is indicated on the right. The comparison with the father (bottom) shows the expected parent-offspring IBS pattern (two IBS 0 SNPs are genotype errors); the comparison with the mother (top) shows 207 unexpected SNPs in IBS 0, caused by the absence of maternal alleles for those SNPs due to paternal segmental UPID.