摘要：  目的：分析不同临床表型腭心面综合征患者在22q11.2区的DNA拷贝数变异类型，探讨二者的关系。方法：55例临床诊断为腭心面综合征患者的DNA，经过多重连接依赖探针扩增技术检测，记录临床表型。结果：44例（80.0%）患者在22q11.2区有DNA拷贝数变异，其中43例（78.2%）出现22q11.2杂合性缺失，1例（1.8%）为22q11.2复制。在43例22q11.2缺失患者中，40例（93.0%）为3Mb典型缺失，3例（7.0%）为1.5Mb的近端缺失。另外，这43例患者均表现为典型面容和腭咽部畸形，37例（86.0%）表现出认知和行为障碍，23例（53.5%）有自身免疫功能缺陷，10例（23.3%）表现先天性心脏病。所有表现典型面容的患者均出现了22q11.2缺失，但3Mb缺失和1.5Mb缺失患者的临床表型没有明显不同。结论：典型面容可被认为是临床直接诊断腭心面综合征22q11.2缺失的重要依据。

关键词: 腭心面综合征, 表型, DNA拷贝数变异, 典型面容, 22q11.2

Abstract: Objective: To analyze whether the variable expressivity of the main clinical findings of velocardiofacial syndrome （VCFS） patients are related to types of copy number variations （CNVs）on chromosome 22q11.2 . Methods: 55 Chinese patients clinically diagnosed as VCFS were detected by multiplex ligation-dependent probe amplification (MLPA). The data of molecular diagnosis analyzed by MLPA and all of the clinical features presenting here were documented in detail. Results: 44 patients (80.0%) were screened out having CNVs on 22q11.2. Among these, 43 patients (78.2%) presented 22q11.2 heterozygous deletions, of whom 40 patients(93.0%) had typical 3Mb deletion, 3 patients (7.0%) had proximal 1.5Mb deletion. Of the 43 22q11.2 deletions patients 43 patients (100%) had typical face and palatal anomalies, 37 patients (86.0%) had cognitive or behavioral disorders, 23 patients (53.5%) had immune deficiency, and 10 patients (23.3%) had congenital heart diseases. Interestingly, all of the patients who presented with a typical face had 22q11.2 heterozygous deletions, but there is no different of phenotypic spectrum between the 3Mb and 1.5Mb deletion. Conclusion: Typical face should be a key factor for directly diagnosis of 22q11.2 deletions in VCFS patients.

Key words: velocardiofacial syndrome, phenotype, copy number variations, typical face, 22q11.2

中图分类号: 

• R782.2