On with the BWS score devoid of statistical significance (r = 0.137, p 0.05) (Figure 4). The IC1 methylation level was larger for the subjects with capabilities of pre- or postnatal overgrowth (IC1 methylation level: 48.9 vs. 41.0) and hemihypertrophy (52.two vs. 46.0) than these without the need of these characteristics with no statistical significance (p 0.05) (Table five).Table 1. Epigenetic defects in the 36 subjects with clinically diagnosed BWS, 38 subjects with suspected BWS, and 30 subjects with only minor functions of BWS.Epigenetic Defects Clinical Classification Clinical diagnosis (n = 36) Suspected BWS (n = 38) All (n = 74) Only minor criteria (n = 30) BWS Score (Maximum = eight) IC2 Hypomethylation 12 (33) 6 (16) 18 (24) 1 (3) IC1 Hypermethylation two (5) 0 two (3) 0 pUPD Unknown Molecular Diagnosis Price 61 18 39 75.five .four two.five 1.0 four.0 1.9 0.9 0.eight (22) 1 (3) 9 (12) 1 (three)14 (39) 31 (82) 45 (61) 28 (93)BWS, Beckwith-Wiedemann syndrome; IC, imprinting center; pUPD, paternal Bafilomycin C1 custom synthesis uniparental disomy.J. Pers. Med. 2021, 11,6 ofFigure 1. IC1 and IC2 methylation levels in the 104 subjects with suspected Beckwith-Wiedemann syndrome in this study. IC, imprinting center; pUPD, paternal uniparental disomy. Red lines represent upper and reduce limits with the reference ranges (IC1: 363 , IC2: 351). Table two. Clinical features from the 19 subjects with IC2 hypomethylation, 10 subjects with pUPD, and two subjects with IC1 hypermethylation. Clinical Functions BWS score (maximum = 8) Assisted reproductive technology Important features Macroglossia Pre- or postnatal gigantism (growth 90th centile) Abdominal wall defects Minor characteristics Ear creases/pits Renal abnormalities Facial naevus flammeus Neonatal hypoglycemia Hemihypertrophy 2-NBDG In Vivo Congenital cardiac malformations Neoplasia Moderate or serious mental retardation Polydactyly Cleft palate Intra-abdominal visceral organomegaly IC2 Hypomethylation (n = 19) 5.three 1.9 three (16) 18 (95) 11 (58) 11 (58) 11 (58) five (26) ten (53) five (26) four (21) five (26) 1 (5) two (11) 0 0 13 (68) pUPD (n = ten) four.7 two.0 1 (ten) six (60) 9 (90) 6 (60) three (30) 5 (50) 3 (30) 0 9 (90) 1 (10) 0 0 0 0 six (60) p Value 0.646 0.681 0.018 0.081 0.917 0.164 0.216 0.260 0.079 0.0001 0.32 0.478 0.305 — — 0.664 IC1 Hypermethylation (n = 2) six.5 0.7 0 2 (one hundred) two (one hundred) 2 (one hundred) 2 (one hundred) two (one hundred) 1 (50) 0 0 1 (50) 0 0 0 0 two (one hundred)BWS, Beckwith-Wiedemann syndrome; IC, imprinting center; pUPD, paternal uniparental disomy. p 0.05 are printed in bold.J. Pers. Med. 2021, 11,7 ofTable three. Quantitative IC2 methylation level by MassARRAY for 19 BWS subjects with IC2 hypomethylation in this study with or without the need of every single big and minor BWS attributes.Major and Minor Characteristics Important functions Macroglossia Pre- or postnatal overgrowth (development 90th centile) Abdominal wall defect Minor functions Ear creases/pits Renal abnormalities Facial naevus flammeus Neonatal hypoglycemia Hemihypertrophy Congenital cardiac malformations Neoplasia Moderate/severe mental retardation Polydactyly Cleft palate Intra-abdominal visceral organomegaly With Devoid of With Devoid of With Without With Without having With With no With Devoid of With Without the need of With Devoid of With Without having With With no With Without 11 8 five 14 ten 9 5 14 4 15 5 14 1 18 2 17 0 19 0 19 13 6 9.9 15.0 11.2 12.4 12.0 12.1 ten.4 12.six 12.0 12.1 12.four 11.0 30.0 11.1 7.0 12.six — 12.1 — 12.1 11.2 13.8 0.123 0.763 0.974 0.557 0.987 0.709 0.005 0.297 1.000 1.000 0.470 With With out With Without With With no 18 1 11 eight 11 eight 11.1 30.0 8.5 16.9 10.five 14.3 0.005 0.007 0.258 With or Without Particular Characteristics N Mean IC2 Meth.