Fig. 1

The Chinese family with MECP2 duplication syndrome. a Pedigree of the Chinese family. b Facial features of the affected male patients (a. III:16 at 11 years and 2 months old. b. III:6 at 24 years old. c. IV:2 at 2 years and 10 months old. d. IV:1 at 14 years and 8 months old). They show consistent and typical facial features of MECP2 duplication syndrome, such as midface hypoplasia, long face, down-slanting palpebral fissures, epicanthus, small mouth, jaw protrusion, low-set ears, and large ear lobe and crease