We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level.

中文翻译：

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智力障碍患者的远端 2q 重复

我们报告了一名在 2q36.3-qter 有远端 16.4-Mb 重复的患者，其表现出严重的智力障碍、小头畸形、短头畸形、前额突出、眼距过远、眼睛突出、上唇薄和早产。使用整个外显子组数据的拷贝数分析检测到远端 2q 重复。这是第一份在分子水平上描述远端 2q 重复的报告。