Table 1

Description of patients and genotyping characteristics

Patient IDDiagnosisMolecular findingGenderBRLMM (%)*Average heterozygosity (%)
SRS-hypo-1SRSH19 hypomethylationMale99.3326.54
SRS-hypo-2SRSH19 hypomethylationMale99.1226.88
SRS-hypo-3SRSH19 hypomethylationFemale99.4727.00
SRS-hypo-4SRSH19 hypomethylationFemale99.3727.26
SRS-hypo-5SRSH19 hypomethylationFemale99.1927.24
SRS-hypo-6SRSH19 hypomethylationMale99.1726.20
SRS-hypo-7SRSH19 hypomethylationFemale99.2826.99
SRS-hypo-8SRSH19 hypomethylationFemale88.0535.24
SRS-hypo-9SRSH19 hypomethylationMale98.6327.22
SRS-hypo-10SRSH19 hypomethylationMale98.9526.36
SRS-ue-1SRSNone, idiopathicFemale99.4826.60
SRS-ue-2SRSNone, idiopathicFemale99.6026.94
SRS-ue-3SRS-likeNone, idiopathicFemale99.5327.00
SRS-ue-4SRS-likeNone, idiopathicFemale99.4627.18
SRS-ue-5SRS-likeNone, idiopathicMale99.2726.66
SRS-ue-6SRSNone, idiopathicFemale97.8827.04
SRS-ue-7SRSNone, idiopathicFemale99.2627.13
SRS-ue-8SRSNone, idiopathicFemale99.2427.46
SRS-ue-9SRSNone, idiopathicFemale99.2626.98
SRS-ue-10SRSNone, idiopathicFemale99.2927.23
SRS-ue-11SRS-likeNone, idiopathicMale99.6626.44
SRS-ue-12SRSNone, idiopathicMale98.7826.74
  • ↵* BRLMM refers to the call rate with the Affymetrix BRLMM genotyping algorithm.

  • SRS, Silver–Russell syndrome.