Table 2

Enrichment of the 15q11.2 deletion in two independent cohorts of patients referred for neurodevelopmental disorders

CNV
NDD cohort
DeletionDuplication
SJCHUOUHSJCHU+OUHSJCHUOUHSJCHU+OUH
No. in NDD cohort98/14 46311/985109/15 44877/14 4638/98585/15 448
Frequency in NDD cohort0.7%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 0.620.170.44
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.