Abstract

A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndrome is discussed.