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Table 3 Clinical characteristics of the patients with Silver-Russell syndrome and 11p15 ICR1 hypomethylation

From: Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation

  Patient
S1 a S2 S3 a S5
Sex [M/F] M F F M
Duration of gestation [weeks] 40 39 39 39
Birth weight [g] 1,560 1,380 1,960 1,800
  [SDS] −5.7 −5.4 −3.5 −4.2
Birth length [cm] 40 38 45 44
  [SDS] −6.0 −6.1 −2.4 −3.2
Age [years] 15.0 16.6 9.2 16.3
Height [cm] 149.1 151.7 129.7 151.5
  [SDS] −2.6 −2.2 −0.9 −3.4
Weight [kg] 30.1 27.1 27.2 61.0
BMI [kg/m2] 13.5 11.8 16.2 26.6
Pubertal stage [Tanner stages] G4PH4 B5PH5 B1PH2 G5PH5
Normal cognitive development + + + +
Asymmetry + + + +
Triangular face + + + +
Bossing forehead + + + +
GH therapy + + + -
  1. aTwo patients with additional methylation defects outside the 11p15 locus.