Table 1

 Comparison of genetic alterations and their frequencies in BWS and SRS

Type of mutationBWS*SRS†
*Frequencies are derived from Weksberg et al8; †superscript numbers in the last column are references; ‡present study.
Uniparental disomy of 11p15Paternal10–20%Maternal– (0/46)2
Structural chromosomalPaternal duplications1%Maternal duplications4% (2/46)2
rearrangements of 11p15Inversions/translocations1%
In telomeric 11p15Hypermethylation of H192%Hypomethylation of ICR131–55%‡,3 (16/51, 5/9)
imprinting domainLoss of imprinting of IGF225–50%
In centromeric 11p15Mutations in CDKN1C5–10% sporadicMutations in CDKN1C6
imprinting domain25% aut. dominant
Hypomethylation of KvDMR150%Hypermethylation of KvDMR1–‡3
OthersMaternal UPD7/duplications in 7p10%