A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

Abstract

The 22q11.2 deletion was common in this birth population. The clinical phenotype included a wide and variable spectrum of major cardiac and extracardiac anomalies. From these population-based data, one can estimate that at least 700 affected infants are born annually in the United States. Population-based estimates such as these should be useful to medical professionals and policy makers in planning for the optimal care of people with the 22q11.2 deletion.