Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassing CHD8 and SUPT16H, has been described, highlighting the importance of a tight control of at least CHD8 gene-dosage for a normal development. There have been only a few reports of 14q11.2 microduplications. Patients showed variable neurodevelopmental issues of variable severity. Breakpoints of the microduplications were non-recurrent, making interpretation of the CNV and determination of their clinical relevance difficult. Here, we report on two patients with 14q11.2 microduplication encompassing CHD8 and SUPT16H, one of whom had normal intelligence. Review of previous reports describing patients with comparable microduplications allowed for a more precise delineation of the condition and widening of the phenotypic spectrum.

中文翻译：

---

与CHD8-SUPT16H复制有关的神经发育表型。

研究表明，涉及SUPT16H和CHD8的14q11.2基因座的微缺失会导致发育迟缓，智力障碍，自闭症谱系障碍和大头畸形。还显示导致CHD8单倍功能不全或功能丧失的变异导致相似的表型。最近，已经描述了包含CHD8和SUPT16H的14q11.2微复制综合征，突显了严格控制至少CHD8的重要性正常发育的基因剂量。关于14q11.2微复制的报道很少。患者显示出严重程度各异的神经发育问题。微复制的断点是非周期性的，因此难以解释CNV和确定其临床相关性。在这里，我们报道了两名患有14q11.2微复制的患者，包括CHD8和SUPT16H，其中一名患者智力正常。回顾以前的报道，该报道描述了具有可重复的微复制的患者，从而可以更精确地描绘病情并扩大表型谱。