TABLE 1.
Characteristics of the Beckwith-Wiedemann spectrum (BWSp) cohort
| Characteristic | Total, N (%) |
|---|---|
| Sex, male: female | 154:190/344 (44.8%:55.2%) |
| From the United States | 302/344 (87.8%) |
| Race/ethnicity group | |
| Caucasian only | 227/344 (66.0%) |
| Mixed race/ethnicity | 49/344 (14.2%) |
| Non-Caucasian or Hispanic only | 49/344 (14.2%) |
| Unknown/not reported | 19/344 (5.5%) |
| BWSp subgroup | |
| Classic | 207/322 (64.3%) |
| Atypical | 55/322 (17.1%) |
| ILOa | 60/322 (18.6%) |
| Diagnosis group | |
| IC1 GOMb | 32/344 (9.3%) |
| IC2 LOMc | 118/344 (34.3%) |
| pUPD11d | 78/344 (22.7%) |
| CDKN1C mutation | 7/344 (2.0%) |
| GWpUPDe | 8/344 (2.3%) |
| 11p15 anomaly | 19/344 (5.5%) |
| Negative testing | 57/344 (16.6%) |
| No testing | 19/344 (5.5%) |
| Unknown | 6/344 (1.7%) |
a
ILO: isolated lateralized overgrowth.
b
IC1 GOM: gain of methylation at H19/IGF2:IG DMR.
c
IC2 LOM: loss of methylation at KCNQ1OT1:TSS DMR.
d
pUPD11: paternal uniparental isodisomy of chromosome 11p15.
e
GWpUPD: genome wide paternal uniparental isodisomy.