Table 2.
Enrichment of the 15q11.2 deletion in two independent cohorts of patients referred for neurodevelopmental disorders
| CNV NDD cohort |
Deletion | Duplication | ||||
| SJCHU | OUH | SJCHU+OUH | SJCHU | OUH | SJCHU+OUH | |
| No. in NDD cohort | 98/14 463 | 11/985 | 109/15 448 | 77/14 463 | 8/985 | 85/15 448 |
| Frequency in NDD cohort | 0.7% | 1.1% | 0.7% | 0.5% | 0.8% | 0.6% |
| Frequency in UKBB* | 0.36% | 0.36% | 0.36% | 0.5% | 0.5% | 0.5% |
| P value | 7.2e−08 | 1.1e−03 | 1.8e−09 | 0.62 | 0.17 | 0.44 |
| OR and (95% CI) |
1.9
(1.5–2.4) |
3.1
(1.6–5.7) |
2.0
(1.6–2.4) |
1.1 (0.8–1.3) |
1.6 (0.7–3.2) |
1.1 (0.9–1.4) |
Statistical significant values are in bold.
*UKBB frequencies of the 15q11.2 deletion and duplication are 0.36% (544/151619) and 0.50% (762/151619), respectively.
CI, confidence interval; NDD, neurodevelopmental disorder;OR, odds ratio; OUH, Odense University Hospital; SJCHU, Saint-Justine University Hospital; UKBB, UK BIOBANK.