AI Summary
- Deletion size correlates with congenital heart disease prevalence and severity in 22q11.2 deletion syndrome.
- Background common and rare genetic variation modulates congenital heart disease penetrance among 22q11.2 deletion carriers, consistent with oligogenic contributions.
- Analysis of 3016 individuals demonstrates robust evidence for incorporating deletion breakpoint and background genetics into risk stratification and counselling.
J Med Genet. 2026 Oct 14:jmg-2026-111761. doi: 10.1136/jmg-2026-111761. Online ahead of print.
NO ABSTRACT
PMID:42875165 | DOI:10.1136/jmg-2026-111761
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