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.
D000293:Adolescent; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic