Figure 1

Craniofacial features of patient 1(A-D). (A) one year old, (B) and (C) 14 years old, Note the distinctive facial features, downward slanting palpebral fissures, a large mouth with downturned corners, a short webbing neck and low posterior hairline. (D) Schematic of the duplications in previously report showing the relative positions of PTPN11 and TBX5. The upper seven black bars represent the reported duplications. The smallest overlap region (108.2 Mb-113.6 Mb) is indicated in blue bar. Genomic data have been converted to Hg19.