Figure 3

Analysis of family K. ( A ) Patient K (note the dolichocephalic skull, upslanting palpebral fissures, convergent strabismus, epicanthus, wide nasal bridge, small nose, low-set protruding ears with malformed helices, macrostomia, micrognathia, short philtrum, and short neck). ( B ) Real-time PCR analysis of CNTN6; upper panel, the duplication of CNTN6 in grandmother K (I-1); middle panel, the duplication of CNTN6 in father K (II-2) and proband K (III-1); and lower panel, the two copies of CNTN6 in patient’s K aunt (II-3) and her daughter (III-2). ( C ) The pedigree plot for family K; the dark, solid square represents the affected patient K, and the gray, solid square and circle represent father K and grandmother K, respectively.