[Frequency of 22q11 deletions in children with isolated conotruncal defects].
OBJECTIVE
The frequency of the 22q11.2 deletion syndrome is increasing worldwide. The cardiovascular anomalies are one of the most frequent clinical manifestations in this syndrome. This study was designed to determine the frequency of 22q11.2 deletions in a prospectively ascertained sample from children with isolated conotruncal defects in China.


METHODS
Twenty-four children with isolated conotruncal defects were prospectively enrolled and screened for the presence of 22q11.2 deletions using fluoresence in situ hybridization. The 24 patients consisted of two cases of persistent truncus arteriosus (PTA), five cases of pulmonary atresia/ventricular septal defect (PA/VSD), thirteen cases of tetralogy of Fallot (TOF), and four cases of double outlet right ventricle (DORV).


RESULTS
Only 1 of the 24 patients had 22 q11.2 deletions. The frequency of 22q11.2 deletions (4.2%) was lower than that reported by other authors.


CONCLUSIONS
Although 22q11.2 deletion is common in syndromic conotruncal anomalies, it is rare in isolated conotruncal anomalies.
Shen
Lei
L
Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
Xu
Yue-Juan
YJ
Zhao
Peng-Jun
PJ
Sun
Kun
K
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male