Microdeletions of chromosome 22q11.2 (de1.22q11) cause DiGeorge syndrome, v
elo-cardio-facial syndrome, and conotruncal anomaly face syndrome, which ar
e commonly associated with conotruncal heart anomalies. Approximately 15% o
f the patients manifest ventricular septal defect (VSD), and the conal-sept
al type of VSD has been proposed to be associated with de1.22q11, since it
is categorized as a conotruncal anomaly. However, the types of VSD associat
ed with de1.22qll remain poorly studied. The purpose of this study is to as
sess whether conal-septal VSD or other types of VSDs are associated with de
1.22qll. We analyzed the chromosomes of 22 consecutive patients with conal-
septal VSD, prospectively, and evaluated the types of VSD observed in 3 pat
ients with de1.22q11, retrospectively. De1.22q11 was not detected in any of
the 22 patients with conal-septal VSD. All the VSDs observed in the 3 pati
ents with de1.22q11 were a perimembranous type of VSD, which is not a conot
runcal anomaly. Our results suggest that perimembranous VSD can be associat
ed with de1.22q11, but de1.22q11 is not a common cause of conal-septal VSD.