Autosomal dominant piebaldism and mental retardation syndrome associated with a t(1;2) (p22.1;q36)

A syndrome of piebaldism and mild to moderate mental retardation was present in 3 sibs and their father. Besides, the disorder was segregating concordantly with a t(1;2) (p22.1;q36). It is concluded that the syndrome is due, either by gene breakage or dysfunction, to the translocation.