Additional file 5: of Association of four imprinting disorders and ART

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)