PARTIAL TRISOMY AND MONOSOMY 8P DUE TO INVERSION DUPLICATION

Fluorescent in situ hybridization with probes specific for a chromosom al subregion and chromosome-specific libraries (chromosome painting) a re important new methods for assessing chromosome rearrangements. In t his paper we present four patients with additional chromosomal materia l on chromosome 8p who have been studied using G-banding techniques, c hromosome painting and FISH with cosmid probes specific for the region 8p23.1 --> 8pter. In all cases we found a partial inversion duplicati on of 8p along with a deletion of the region 8p23.1 --> 8pter.