Prevalence and spectrum of congenital heart disease in individuals with distal chromosome 22q11.22-23 deletions
Tanner J. Nelson, Daniel E. McGinn, Terrence Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, , Donna M. McDonald‐McGinn
This study examines congenital heart disease in individuals with distal 22q11.22-23 deletions, finding lower prevalence compared to proximal deletions and identifying specific cardiac anomalies.
Clinical Genetics · Dec 8, 2025Peer-reviewedGenetic & Genomic Medicine