[孤立性圆锥动脉干畸形患儿22q11缺失的频率]
[Frequency of 22q11 deletions in children with isolated conotruncal defects].
作者信息
Shen Lei, Xu Yue-Juan, Zhao Peng-Jun, Sun Kun
机构信息
Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2009 Jan;11(1):25-8.
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.
目的
22q11.2缺失综合征在全球范围内的发病率正在上升。心血管异常是该综合征最常见的临床表现之一。本研究旨在确定在中国患有孤立性圆锥动脉干畸形的儿童前瞻性样本中22q11.2缺失的频率。
方法
前瞻性纳入24例患有孤立性圆锥动脉干畸形的儿童，并使用荧光原位杂交技术筛查22q11.2缺失情况。24例患者包括2例永存动脉干（PTA）、5例肺动脉闭锁/室间隔缺损（PA/VSD）、13例法洛四联症（TOF）和4例右心室双出口（DORV）。
结果
24例患者中仅有1例存在22q11.2缺失。22q11.2缺失的频率（4.2%）低于其他作者报道的频率。
结论
虽然22q11.2缺失在综合征性圆锥动脉干异常中很常见，但在孤立性圆锥动脉干异常中很少见。
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