单纯性圆锥动脉干畸形患者染色体22q11.2微缺失的研究

Frequency of 22q11 deletions in children with isolated conotruncal defects

摘要:

目的：心血管畸形是22q11.2缺失综合征常见的临床表现，随着研究的深入，该综合征发生率逐渐提高。该文就单纯性心脏圆锥动脉干畸形患者染色体22q11.2微缺失发生率进行研究。方法：对24例单纯型圆锥动脉干畸形患者，包括2例永存动脉干，5例肺动脉闭锁/室间隔缺损，13例法洛四联症，4例右室双出口进行22q11.2内位点DNA探针荧光原位杂交（FISH）检测。结果：24例单纯性圆锥动脉干畸形患者中仅1例患者有22q11.2缺失，发生率为4.2%，低于以往报道。结论：尽管22q11.2缺失在伴其他系统异常的心脏圆锥动脉干畸形患者中较常见，单纯性圆锥动脉干畸形患者很少发现该缺失。［中国当代儿科杂志，2009，11（1）：25-28］

Abstract:

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.［Chin J Contemp Pediatr, 2009, 11 (1):25-28］