INVERSION DUPLICATION OF THE SHORT ARM OF CHROMOSOME-8 - CLINICAL-DATA ON 7 PATIENTS AND REVIEW OF THE LITERATURE

We report on clinical and cytogenetic data on 5 children and 2 adults with a de novo inverted duplication of the short arm of chromosome 8, and we give a review of 26 patients from the literature. The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay, In older patients the facia l traits are less characteristic, spastic paraplegia develops, and sev ere orthopedic problems are frequent. Psychomotor retardation is alway s severe-to-profound, Duplication of 8p21-p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. It is shown that in all patients examined, the duplication was accompanied by a deletion of the most terminal part of 8p. (C) 199 5 Wiley-Liss, Inc.