Fig. 1: The sex bias in copy-number variant (CNV) burden for patients with neurodevelopmental disorders (NDDs).

(a) The genome-wide and autosomal genomic CNV burden (size and gene count) in 4,288 boys and 2,627 girls with NDDs. Female patients carried larger CNVs (10.33 Mb vs. 8.45 Mb, p < 0.01) and more genes (209 vs. 172, p < 0.01) than males. The line and diamond in the solid box represent the median and mean of size and gene count with 25th and 75th percentiles labeled. *p < 0.05, **p < 0.01. (b) Left: The autosomal pCNV yield in male and female patients with NDDs. Higher yield was seen for girls compared with boys (25.66% vs. 19.33%, p < 0.01). Right: The pCNV yield in male and female patients with different subphenotypes of nonsyndromic NDDs (statistical power was not calculated for attention deficit–hyperactivity disorder (ADHD) due to small sample). Significantly higher pCNV yield was observed in girls for nonsyndromic intellectual disability/developmental delay (ID/DD) (23.66% vs. 17.37%, p < 0.01), but not for nonsyndromic autism spectrum disorder (ASD) (5.41% vs. 4.35%, p = 1), or seizure/epilepsy (13.59% vs. 7.10%, p = 0.18). *p < 0.05, **p < 0.01. NS not significant. (c) The inheritance status of 132 clinically relevant CNVs and 118 pCNVs in 124 patients with NDDs. The rate of de novo, maternal, and paternal inheritance was 63.6%, 25.8%, and 10.6% respectively for all CNVs, and the rate became 68.6%, 22.03%, and 9.4% respectively for pCNVs.