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anatomy representative of the entire population of PA/
VSD/MAPCA’s patients, with and without 22q11 dele-
tion. Also, the fact that some of the patients had studies
(including the FISH test and catheterization) at various
institutions introduces bias.
Collaterals can regress over time, and these patients
entered our system at various ages. A cohort study of all
newborns may yield different results.
Studies with more PA/VSD/MAPCA’s patients would
be helpful to better characterize the anatomy in those
with and without 22q11 deletion. In time, genomic and
embryologic research may help determine the exact me-
chanisms by which 22q11 deletion contributes to the
development of congenital heart disease such as PA/VSD
/MAPCA’s.
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