We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome region 17p13.3p13.2. To our knowledge, this is the first report of polymicrogyria associated with the 17p13.3 contiguous gene duplication syndrome. Testing for known monogenic causes of polymicrogyria was negative and there was no clinical evidence of an acquired prenatal cause. Given the critical, dose-sensitive role that the 17p13.3 region plays in brain development, we suggest that the chromosome duplication is the most likely explanation for the polymicrogyria. Clinical and functional studies have demonstrated deleterious effects of increased LIS1 expression on the developing brain and the contribution of YWHAE to the brain phenotype of the 17p13 duplication syndrome. There is also evidence that CRK, the other candidate gene in this region, via interaction with LIS1, plays a critical role in cortical development. In addition to LIS1, YWHAE and CRK, our patient's chromosome duplication involves at least 100 other genes, less than half of which are annotated at the time of writing. It is expected that the ongoing use of chromosome microarray and next-generation sequencing to investigate the genetic causes of brain malformations will continue to extend our understanding of the 17p13 region and of the contributions of the genes in this region to cortical development.

我们提出了一例男婴，伴有双侧周围神经小带回，伴有染色体区域17p13.3p13.2的从头复制。据我们所知，这是与17p13.3连续基因复制综合征相关的多菌核的首次报道。对已知的单基因多尿症单基因原因的检测为阴性，并且没有临床证据表明获得性产前原因。考虑到17p13.3区域在大脑发育中起着关键的，剂量敏感的作用，我们建议染色体复制是多菌核的最可能解释。临床和功能的研究已经证明增加的不利影响LIS1对发育中的大脑和贡献表达YWHAE17p13复制综合征的脑表型。也有证据表明，该区域的另一个候选基因CRK通过与LIS1相互作用，在皮层发育中起关键作用。除了LIS1，YWHAE和CRK，我们的患者的染色体的复制涉及到其他至少100个基因，在写作的时候被注释不到其一半。可以预期，目前正在使用的染色体微阵列和下一代测序技术来研究脑畸形的遗传原因，将继续扩大我们对17p13区域以及该区域基因对皮质发育的贡献的理解。