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)按母亲年龄分层的辅助生殖技术（Assisted Reproductive Technology, ART）患者与自发妊娠（Spontaneous Pregnancy, Sp）患者中，罹患贝-威综合征（BWS）、安格尔曼综合征（AS）与银罗素综合征（SRS）的不同发病机制发生频率。(a) 贝-威综合征（BWS）；(b) 安格尔曼综合征（AS）；(c) 银罗素综合征（SRS）。本研究通过问卷调查获取了染色体异常、基因突变及甲基化异常患者的例数与占比。针对BWS，UPD与基因异常分别指代11号染色体父源单亲二体（uniparental disomy, UPD）及CDKN1C基因突变；甲基化异常则分别包括H19/IGF2 IG-DMR区域甲基化获得与KCNQ1OT1:TSS-DMR区域甲基化缺失（Loss of Methylation, LOM）。针对AS，UPD与基因异常分别指代15号染色体父源单亲二体与UBE3A基因突变。针对SRS，UPD与甲基化异常分别指代7号染色体母源单亲二体与H19/IGF2 IG-DMR区域甲基化缺失。UPD：单亲二体；LOM：甲基化缺失。（XLSX格式文件，大小11 KB）