Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort.

最近已经描述了3q29的间质重复与一种以神经发育表型为特征的新遗传综合征有关。文献中总共报告了16名3q29重复个体，其临床特征包括智力残疾，语言延迟，癫痫，脑结构异常，微/大头畸形，全身性肥胖，眼部异常，独特的面部特征，c裂和肌肉骨骼异常。在本文中，我们总结了当前的文献，并在辛辛那提儿童医院医学中心遗传与基因组学实验室通过微阵列分析鉴定了来自9个家庭的另外11个病例，这些病例具有3q29微重复。产前做了三项诊断，这是第一个描述在产前偶然发现的3q29重复病例的病例系列。我们进一步描述了先前文献中描述的重叠的最小区域，并探索了“二次打击”遗传畸变的修饰作用，这种变异在我们的队列中很常见。