11p13 microdeletion in the family with aniridia.
A. Pedigree of the family. Squares and circles indicated males and females respectively. The symbols in black represent the affected members. The arrow indicates the proband. The square with a line indicated a deceased individual. The inheritance pattern in the family is autosomal dominant. B. MLPA results from a normal control and the proband (II:1). These peaks filled with solid blue represent probes that display nearly half dose reduced. C. The 518 kb genomic microdeletion of chromosome 11p13 identified by SNP-array. This deletion harbors two whole genes ELP4, PAX6, and the first two exons of IMMP1L.