Takahashi K, Kido S, Hoshino K, Ogawa K, Ohashi H, Fukushima Y
Division of Cardiology, Saitama Children's Medical Centre, Japan.
Eur J Pediatr. 1995 Nov;154(11):878-81. doi: 10.1007/BF01957496.
Recent molecular studies have revealed that a 22q11 deletion is frequently detected in DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). As one of the major clinical manifestations in these three syndrome is conotruncal cardiac malformation, we prospectively studied the frequency of a 22q11 deletion in a group of patients with conotruncal cardiac malformation. Fluorescence in situ hybridization (FISH) analyses using N25 (D22S75) DiGeorge Chromosome Region probe were performed on 64 patients with conotruncal cardiac malformation, who visited our clinic from October 1993 to January 1994. Of the 64 patients studied, a 22q11 deletion was detected in 5 patients (7.8%): 3 out of 30 patients with tetralogy of Fallot, one of three with interruption of the aortic arch, and one hemitruncus patient. No deletion was found in 16 patients with complete transposition of the great arteries, 8 with double outlet right ventricle and 2 with aortopulmonary window. In these five patients with 22q11 deletion, patient 1 was clinically diagnosed as having DGS, patients 2 and 3 had CTAFS, and patient 4 had VCFS. Patient 5 could not be dysmorphologically evaluated. It was noteworthy that all patients with a 22q11 deletion, except a non-evaluated patient, had some symptoms DGS, CTAFS or VCFS, and that we failed to identify a non-syndromic 22q11 deletion positive patients in the present series' of 64 patients. Conclusion. This study suggests that it is advisable to bear 22q11 deletion in mind when a patient with conotruncal cardiac anomalies has some other features of DGS, VCFS or CTAFS.
最近的分子研究显示，在迪格奥尔格综合征（DGS）、心脏-颜面综合征（VCFS）和圆锥动脉干异常面容综合征（CTAFS）中经常检测到22q11缺失。由于这三种综合征的主要临床表现之一是圆锥动脉干心脏畸形，我们前瞻性地研究了一组圆锥动脉干心脏畸形患者中22q11缺失的频率。1993年10月至1994年1月期间，我们对64例圆锥动脉干心脏畸形患者进行了荧光原位杂交（FISH）分析，使用N25（D22S75）迪格奥尔格染色体区域探针。在这64例研究患者中，5例（7.8%）检测到22q11缺失：30例法洛四联症患者中有3例，3例主动脉弓中断患者中有1例，1例半侧动脉干患者。16例大动脉完全转位患者、8例右心室双出口患者和2例主肺动脉窗患者未发现缺失。在这5例22q11缺失患者中，患者1临床诊断为DGS，患者2和3患有CTAFS，患者4患有VCFS。患者5无法进行畸形评估。值得注意的是，除1例未评估患者外，所有22q11缺失患者均有一些DGS、CTAFS或VCFS症状，并且在本系列的64例患者中，我们未能识别出非综合征性22q11缺失阳性患者。结论。本研究表明，当圆锥动脉干心脏异常患者有DGS、VCFS或CTAFS的其他特征时，应考虑22q11缺失。
