Fig. 1

Flowchart of inclusion criteria. A total of 336 patients were referred to us for genetic testing for Silver-Russell syndrome (SRS) from 2002 to 2018. Our study included 92 patients without pathogenic copy number variations or abnormal methylation levels for ten differentially methylated regions (DMRs), namely, H19/IGF2:IG-DMR, PEG10:TSS-DMR, MEST:alt-TSS-DMR, PLAGL1:alt-TSS-DMR, KCNQ1OT1:TSS-DMR, MEG3/DLK1:IG-DMR, MEG3:TSS-DMR, SNURF:TSS-DMR, ZNF597:TSS-DMR, and GNAS A/B:TSS-DMR. 11p15 LOM, loss of methylation on chromosome 11p15; upd(7)mat, maternal uniparental disomy of chromosome 7; NH-CSS, Netchine-Harbison clinical scoring system; Chr, chromosome; upd(20)mat, maternal uniparental disomy of chromosome 20; upd(6)mat, maternal uniparental disomy of chromosome 6; upd(11)mat, maternal uniparental disomy of chromosome 11; upd(16)mat, maternal uniparental disomy of chromosome 16. *We evaluated clinical features of only a part of the patients according to the Netchine-Harbison clinical scoring system. **The duplicated region of two patients with 11p15 duplications did not include the H19/IGF2:IG-DMR. Thus, these patients showed normal methylation levels of the H19/IGF2:IG-DMR. The duplicated region of the remaining one patient included the H19/IGF2:IG-DMR. The methylation level of the H19/IGF2:IG-DMR in this patient was low normal, and we did not recognize 11p15 LOM. ***We began upd(16)mat screening in 2016. As such, we performed upd(16)mat screening for only a part of the patients with pathogenic copy number variations and patients with abnormal methylation levels of the DMRs related to known imprinting disorders before 2016