Table 1. Summary of diagnostic and research testing at 11p15.5 loci.
| Tissue | MS-MLPA | Pyro | Methylation array | SNP array |
|---|---|---|---|---|
| Case 1 | ||||
| Blood at birth (1st analysis) | IC2 LOM | |||
| Blood at birth (2nd analysis) | patUPD | |||
| Blood at 15 months (2nd sample) | IC2 LOM | patUPD | Mosaic patUPD | |
| Fibroblasts at 15 months | IC2 LOM | |||
| Kidney at 15 months | patUPD | |||
| Tumour | patUPD | |||
| Case 2 | ||||
| Saliva | IC2 LOM | |||
| Blood | IC2 LOM | IC2 LOM | IC2 LOM | No LOH |
| Case 3 | ||||
| Blood (1st sample) | IC2 LOM | |||
| Blood (2nd sample) | IC2 LOM | IC2 LOM | No LOH | |
| Fibroblasts left | IC2 LOM | |||
| Fibroblasts right | IC2 LOM | |||
| Kidney | IC2 LOM | |||
Abbreviations: GOM, gain of methylation; IC1, 11p15 imprinting centre 1 (H19 IC); IC2, 11p15 IC2 (KCNQ1OT1 IC); LOH, loss of heterozygosity of 11p15.5; LOM, loss of methylation; MS-MLPA, methylation-sensitive multiplex ligation-dependent probe amplification; patUPD, paternal uniparental disomy of 11p15.5; pyro, pyrosequencing; SNP, single-nucleotide polymorphism.