An 8-year-old boy who was diagnosed to have piebaldism had moderate growth and mental retardation. Chromosome analysis from peripheral blood showed pericentric inversion 4(p16q12). The inversion was further confirmed by fluorescence in situ hybridization using whole chromosome painting and centromeric probes. Chromosomal analysis of parents revealed de novo inheritance of this inversion. This is the first report of pericentric inversion associated with piebald trait.
Copyright 2002 Wiley-Liss, Inc.