22q11.2缺失是人类中最常见的间质缺失,并且具有广泛的表型谱,描述了180多种临床表现。不同的研究已经检测到缺失的频率范围从0%到75%,根据研究的人群和采用的选择标准。由于在这个问题上缺乏共识,已经进行了几项研究,旨在确定哪些患者有资格进行筛查;然而,这个问题仍有待讨论。为了有助于描绘可能的临床和形态学指南,以优化临床环境中的决策,对194名具有不同特征的22q11.2缺失综合征(22q11.2DS)的个体进行了评估。第一组,临床怀疑22q11.2DS伴腭畸形;第二组,临床怀疑无腭异常;第三组,与22q11.2DS相关的心脏畸形;和IV组,青少年型精神分裂症.多重连接依赖性探针扩增用于筛选22q11.2缺失,在45例患者(23.2%)中检测到,这样分发:第一组,35/101(34.7%);第二组,4/18(22.2%);第三组,6/52(11.5%);第四组,0/23(0%)。临床资料采用频数分布进行统计学分析。根据目前的结果和文献综述,我们提出了一套筛选具有不同22q11.2DS表现的患者的指南,以最大限度地利用资源.此外,我们报告了我们发现与22q11.2DS存在统计相关的畸形特征。
The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of
consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic
guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of
guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.