Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome Sp who have been studied using G-banding techniques, chromosome painting and FISH with cosmid probes specific for the region 81323.1 -+8pter. In all cases we found a partial inversion duplication of 8p along with a deletion of the region Sp23.1-8pter.
