BRIEF CLINICAL REPORT - PALLISTER-KILLIAN-SYNDROME - A MILD CASE DIAGNOSED BY FLUORESCENCE IN-SITU HYBRIDIZATION - REVIEW OF THE LITERATUREAND EXPANSION OF THE PHENOTYPE

Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic pres ence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PBS with a mild phenotype. Fluorescence in situ hybridization (FISH) was used to demonstrate that the supernumera ry marker chromosome identified in the patient's fibroblasts was an is ochromosome 12p. This study broadens the spectrum of PKS phenotype. It also illustrates the usefulness of fluorescence in situ hybridization in diagnosis of patients with chromosomal abnormalities and mild or a typical clinical findings. (C) 1996 Wiley-Liss, Inc.