| Â | Â | UPD | Gene mutations | Deletions | DNA methylation errors |
|---|
BWS (n = 43) | ART (n = 4) | – | – | – | 100% (4/4)* |
Sp (n = 39) | 46.2% (18/39) | 2.6% (1/39) | 7.7% (3/39) | 43.6% (17/39) |
AS (n = 147) | ART (n = 4) | – | – | 100% (4/4) | – |
Sp (n = 143) | 2.1% (3/143) | 3.5% (5/143) | 92.3% (132/143) | 2.1% (3/143) |
PWS (n = 366) | ART (n = 21) | 42.9% (9/21)* | – | 28.6% (6/21) | 28.6% (6/21) |
Sp (n = 345) | 13.3% (46/345) | – | 73.6% (254/345)* | 13.0% (45/345) |
SRS (n = 22) | ART (n = 5) | – | – | – | 100% (5/5) |
Sp (n = 17) | 23.5% (4/17) | – | – | 76.5% (13/17) |
- The numbers and percentages of patients with chromosomal abnormalities, gene mutations, and methylation abnormalities were obtained from a questionnaire. An asterisk indicates a significant difference between ART-patients and Sp-patients (p < 0.05). 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 at KCNQ1OT1:TSS-DMR, respectively. For AS, UPD, gene, and methylation error indicate paternally uniparental disomy of chromosome 15, UBE3A and loss of methylation at SNRPN-DMR, respectively. For PWS, UPD, and methylation error indicate maternally uniparental disomy of chromosome 15 and gain of methylation at SNRPN-DMR, respectively. For SRS, UPD, and methylation error indicate maternally uniparental disomy of chromosome 7 and loss of methylation at H19/IGF2 IG-DMR, respectively. UPD uniparental disomy
