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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.