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The 22.q11.2 deletion syndrome (22q11DS) is a common genetic condition associated with 22q11.2 microdeletions and classically has included congenital heart disease (CHD) as a part of the variable expression. Some evidence has shown that relatives of those with 22q11DS might be at an increased risk of CHD in the absence of 22q11.2 deletions. We obtained a(More)
BACKGROUND tetralogy of Fallot (TOF) is a complex congenital heart disease with clinical and genetic heterogeneity. Of the few known causes, 22q11.2 deletion syndrome (22q11DS) is the most common. We sought to define other clinical subgroups by focusing on cardiac and extracardiac features. METHODS we prospectively screened a cohort of adults with TOF(More)
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