Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

A family with a novel autosomal-dominantly inherited syndrome characterized by microtia, eye coloboma, and imperforation of the nasolacrimal duct is presented. It is concluded that it is the first Mendelian inherited genetic disorder associated with the amplification of a copy-number variation (CNV).