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Abstract：
Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an 8½-year-old girl with developmental delay, congenital hip dysplasia, a bilateral foot deformity, bilateral congenital radioulnar synostosis, a congenital heart defect, and minor facial anomalies. Results: Chromosomal microarray analysis revealed a 4.9 Mb deletion in the 8q22.2q22.3 region. De novo origin was confirmed by real-time PCR analysis. Conclusions: Microdeletions in the 8q22.2q22.3 region are characterized by moderate to severe intellectual disability, seizures, distinct facial features and skeletal abnormalities. In addition to one already reported individual with an 8q22.2q22.3 microdeletion and unilateral radioulnar synostosis, this report of a child with bilateral radioulnar synostosis provides additional evidence, that radioulnar synostosis is not an incidental finding in individuals with an 8q22.2q22.3 microdeletion. Additional patients with similar microdeletions would be of a great importance for more accurate phenotypic description and further analysis of the genotypic-phenotypic relationship.
摘要：
背景和目的：迄今为止，仅报道了9例间质从头8q22.2q22.3微缺失的患者。本报告的目的是介绍8q22.2q22.3微缺失的新患者的临床特征，为了将她的表型与以前报道的其他患者进行比较，并进一步扩展与这种微缺失相关的表型。材料和方法：我们描述了一个有发育迟缓的8½岁女孩，先天性髋关节发育不良,双侧足部畸形，双侧先天性大尺神经滑膜，先天性心脏病,和轻微的面部异常.结果:染色体微阵列分析显示8q22.2q22.3区域有4.9Mb缺失。通过实时PCR分析确认从头起源。结论：8q22.2q22.3区域的微缺失以中度至重度智力障碍为特征，癫痫发作,明显的面部特征和骨骼异常。除了一个已经报告的个体具有8q22.2q22.3微缺失和单侧桡骨滑膜，这份关于双侧桡尺突骨融合症儿童的报告提供了更多证据，在具有8q22.2q22.3微缺失的个体中，radioulnar融合并不是偶然发现。具有类似微缺失的其他患者对于更准确的表型描述和进一步分析基因型-表型关系将非常重要。
