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The haploinsufficiency of chromosome 22q11.2 can cause both DiGeorge and velocardiofacial syndromes, both of which are characterized by conotruncal heart defects as well as a wide range of other extracardiac anomalies. Several studies have demonstrated that approximately 10–20% of patients with conotruncal heart defects have a 22q11.2 deletion.

Molecular Characterization of Chromosome 22 Deletions by Short Tandem Repeat Polymorphism (STRP) in Patients with Conotruncal Heart Defects