Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

摘要

Recently, in this journal, two children with overlapping apparently de novo 7p22.1 microduplications, characterized by aCGH, have been reported [Chui et al, 2011; Preiksaitiene et al, 2012]. They shared clinical features including: speech delay, macrocephaly, widely spaced eyes, anteverted narses, low set ears, and skeletal abnormalities. Preiksaitiene et al. [2012] suggested that 7p22.1 duplication may constitute a newly recognized clinical syndrome. Here, we report on an additional unrelated young boy with a 7p22.1 microduplication contributing to the delineation of this new syndrome. Moreover, this patient significantly refines the minimal critical region highlighted by Preiksaitiene et al., [2012].