Table 1 Characteristics of participants diagnosed between 2010 and 2021 for PWS and AS, and between 2010 and 2018 for Dup15q
From: Age of diagnosis for children with chromosome 15q syndromes
Variable | Category | PWS (N = 350) | AS (N = 1241) | Dup15q (N = 217) |
|---|---|---|---|---|
Genetic subtype | Deletion | 181 (51.7%) | 629 (50.7%) | n/a |
UBE3A variant | n/a | 213 (17.2%) | n/a | |
Uniparental disomy | 117 (33.4%) | 96 (7.7%) | n/a | |
Imprinting defect | 9 (2.6%) | 25 (2%) | n/a | |
Other | 7 (2%) | 10 (0.8%) | * | |
Isodicentric | n/a | n/a | 102 (47%) | |
Interstitial | n/a | n/a | 82 (37.8%) | |
Other or Unknown | 36 (10.3%) | 268 (21.6%) | 33 (15.2%)* | |
Male | 177 (50.6%) | 666 (53.7%) | 122 (56.2%) | |
Age of diagnosis (years) | Median [IQR] | 0.1 [0, 0.2] | 1.8 [1.1, 3] | 1.8 [0.9, 4] |