Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously been reported in the literature; however, pure distal 7q duplications have only been reported in 21 cases. Twenty of these earlier reports described patients who were identified via karyotype and 1 recently by microarray. Cases have also been reported in genomic databases such as DECIPHER and the University of California Santa Cruz genome browser. We have reviewed 7 additional cases with distal 7q duplications from these databases and compared them to 7 previously reported distal 7q duplication cases to uncover common features including global developmental delay, frontal bossing, macrocephaly, seizures, kyphoscoliosis/skeletal anomalies, and microretrognathia/palatal anomalies. In this case, we describe a 4-year-old boy with a 30.8-Mb pure duplication of 7q32.1q36.3. Newly reported features associated with this duplication include intermittent dystonic posturing, increased behavioral irritability, eosinophilic esophagitis, segmental vertebral anomalies, and segmental intermittent limb cyanosis. We highlight the importance of using publicly available databases to describe rare genetic syndromes and to better characterize the features of pure distal 7q duplications and further postulate that duplication of this region represents a recognizable macrocephalic neurodevelopmental syndrome.
Mol Syndromol

中文翻译：

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纯远端 7q 重复：描述大头神经发育综合征，病例报告和文献回顾

医学文献中很少描述 7q 的纯远端重复。术语纯是指没有伴随临床显着缺失而发生的重复。以前文献中曾报道过各种片段的纯 7q 重复；然而，仅报告了 21 例纯远端 7q 重复。这些早期报告中有 20 例描述了通过核型确定的患者，最近通过微阵列确定了 1 例。DECIPHER 和加州大学圣克鲁斯分校基因组浏览器等基因组数据库中也报告了病例。我们审查了来自这些数据库的另外 7 个远端 7q 重复病例，并将它们与之前报道的 7 个远端 7q 重复病例进行了比较，以揭示共同特征，包括全面发育迟缓、额叶隆起、大头畸形、癫痫发作、脊柱后凸/骨骼异常，以及小颌畸形/腭畸形。在这种情况下，我们描述了一个 4 岁男孩，其 7q32.1q36.3 具有 30.8-Mb 的纯重复。新报告的与这种重复相关的特征包括间歇性肌张力障碍姿势、行为烦躁增加、嗜酸性粒细胞性食管炎、节段性椎体异常和节段性间歇性肢体发绀。我们强调使用公开可用的数据库来描述罕见的遗传综合征并更好地表征纯远端 7q 重复的特征的重要性，并进一步假设该区域的重复代表一种可识别的大头神经发育综合征。新报告的与这种重复相关的特征包括间歇性肌张力障碍姿势、行为烦躁增加、嗜酸性粒细胞性食管炎、节段性椎体异常和节段性间歇性肢体发绀。我们强调使用公开可用的数据库来描述罕见的遗传综合征并更好地表征纯远端 7q 重复的特征的重要性，并进一步假设该区域的重复代表一种可识别的大头神经发育综合征。新报告的与这种重复相关的特征包括间歇性肌张力障碍姿势、行为烦躁增加、嗜酸性粒细胞性食管炎、节段性椎体异常和节段性间歇性肢体发绀。我们强调使用公开可用的数据库来描述罕见的遗传综合征并更好地表征纯远端 7q 重复的特征的重要性，并进一步假设该区域的重复代表一种可识别的大头神经发育综合征。
摩尔综合征