SHORT RIB-POLYDACTYLY SYNDROME AND PERICENTRIC-INVERSION OF CHROMOSOME-4

We report on a newborn infant with clinical and radiological manifesta tions of some type of short rib-polydactyly syndrome who died soon aft er birth. Chromosomal studies on peripheral blood lymphocytes and chon drocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have o ccurred by chance but, if not, the chromosomal breakpoints could inter rupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes.