Clinical characterization of ART-patients. OI/TI, ovulation induction/timed intercourse; IUI, intrauterine insemination; IVF, in vitro fertilization; ICSI, intracytoplasmic sperm injection. N.A. indicates that data was not available. Clinical features were as follows, 1. Macroglossia, 2. Earlobe creases, 3. Umbilical hernia, 4. Hemihypertrophy, 5. Exomphalos, 6. Exophthalmos, 7. Hepatomegaly, 8. Nephromegaly, 9. Ocular hypertelorism, 10. Cryptorchism, 11. Occlusal interference, 12. Mental retardation, 13. Epilepsy, 14. Dysphasia, 15. Dyschromatosis, 16. Ictal laughter, 17. Prognathism, 18. Hyposomnia, 19. Convulsions, 20. Microcephaly, 21. Hypotonia, 22. Feeding difficulties, 23. Almond-shaped eyes, 24. Short stature, 25. Triangular mouse, 26. Acromicria, 27. Bulimia, 28. Obesity, 29. Hypogonadism, 30. Diabetes, 31. Gastrointestinal injury, 32. Cardiac failure, 33. Failure to thrive, 34. Triangular-shaped face, 35. Body asymmetry, 36. Clinodactyly of the fifth fingers, 37. Sweating, 38. Heart malformation. 39. Tumorigenesis. (XLSX 12 kb)

Clinical characterization of ART-patients. OI/TI, ovulation induction/timed intercourse; IUI, intrauterine insemination; IVF, in vitro fertilization; ICSI, intracytoplasmic sperm injection. N.A. indicates that data was not available. Clinical features were as follows, 1. Macroglossia, 2. Earlobe creases, 3. Umbilical hernia, 4. Hemihypertrophy, 5. Exomphalos, 6. Exophthalmos, 7. Hepatomegaly, 8. Nephromegaly, 9. Ocular hypertelorism, 10. Cryptorchism, 11. Occlusal interference, 12. Mental retardation, 13. Epilepsy, 14. Dysphasia, 15. Dyschromatosis, 16. Ictal laughter, 17. Prognathism, 18. Hyposomnia, 19. Convulsions, 20. Microcephaly, 21. Hypotonia, 22. Feeding difficulties, 23. Almond-shaped eyes, 24. Short stature, 25. Triangular mouse, 26. Acromicria, 27. Bulimia, 28. Obesity, 29. Hypogonadism, 30. Diabetes, 31. Gastrointestinal injury, 32. Cardiac failure, 33. Failure to thrive, 34. Triangular-shaped face, 35. Body asymmetry, 36. Clinodactyly of the fifth fingers, 37. Sweating, 38. Heart malformation. 39. Tumorigenesis. (XLSX 12 kb)

Frequency of different prevalence of UPD(15)mat and DNA methylation error in ART-patients and Sp-patients with PWS according to maternal age. All data were obtained from the questionnaire. DNA methylation error indicates gain of methylation at SNRPN-DMR. UPD(15)mat, maternal uniparental disomy of chromosome 15. (XLSX 11 kb)

Frequency of different prevalence of UPD(15)mat and DNA methylation error in ART-patients and Sp-patients with PWS according to maternal age. All data were obtained from the questionnaire. DNA methylation error indicates gain of methylation at SNRPN-DMR. UPD(15)mat, maternal uniparental disomy of chromosome 15. (XLSX 11 kb)

Frequency of different pathogeneses in ART-patients and Sp-patients with BWS, AS and SRS stratified according to maternal age. (a) BWS. (b) AS. (c) SRS. The numbers and percentages of patients with chromosomal abnormalities, gene mutations and methylation abnormalities were obtained from a questionnaire. For BWS, UPD and gene indicate paternally uniparental disomy of chromosome 11 and CDKN1C, and methylation errors include both gain of methylation at H19/IGF2 IG-DMR and loss of methylation (LOM) at KCNQ1OT1:TSS-DMR, respectively. For AS, UPD and gene indicate paternally uniparental disomy of chromosome 15 and UBE3A, respectively. For SRS, UPD and methylation error indicate maternally uniparental disomy of chromosome 7 and LOM at H19/IGF2 IG-DMR, respectively. UPD, uniparental disomy; LOM, loss of methylation. (XLSX 11 kb)

Sequencing information. (XLSX 10 kb)

Sequencing information. (XLSX 10 kb)

Frequency of different pathogeneses in ART-patients and Sp-patients with BWS, AS and SRS stratified according to maternal age. (a) BWS. (b) AS. (c) SRS. The numbers and percentages of patients with chromosomal abnormalities, gene mutations and methylation abnormalities were obtained from a questionnaire. For BWS, UPD and gene indicate paternally uniparental disomy of chromosome 11 and CDKN1C, and methylation errors include both gain of methylation at H19/IGF2 IG-DMR and loss of methylation (LOM) at KCNQ1OT1:TSS-DMR, respectively. For AS, UPD and gene indicate paternally uniparental disomy of chromosome 15 and UBE3A, respectively. For SRS, UPD and methylation error indicate maternally uniparental disomy of chromosome 7 and LOM at H19/IGF2 IG-DMR, respectively. UPD, uniparental disomy; LOM, loss of methylation. (XLSX 11 kb)

Methylation levels of various genomic features in autosomes. Mean methylation levels (%) of CpG cytosines in the promoter, gene body, exon, intron, intergenic region, CGI, CGI shore, CGI shelf, SINE, LINE, LTR, DNA repeat element, SVA and simple repeat. Data are shown as meanâ Âąâ standard deviation. Since the numbers of ART-SRS and Sp-SRS groups were small, we did not calculate p-values between two groups. SINE, short interspersed nuclear element; LINE, long interspersed nuclear element; LTR, long terminal repeat element; SVA, SINE-VNTR-Alu. (XLSX 11 kb)

Methylation levels of various genomic features in autosomes. Mean methylation levels (%) of CpG cytosines in the promoter, gene body, exon, intron, intergenic region, CGI, CGI shore, CGI shelf, SINE, LINE, LTR, DNA repeat element, SVA and simple repeat. Data are shown as meanâ Âąâ standard deviation. Since the numbers of ART-SRS and Sp-SRS groups were small, we did not calculate p-values between two groups. SINE, short interspersed nuclear element; LINE, long interspersed nuclear element; LTR, long terminal repeat element; SVA, SINE-VNTR-Alu. (XLSX 11 kb)