Gillberg C, Steffenburg S, Wahlström J, Gillberg I C, Sjöstedt A, Martinsson T, Liedgren S, Eeg-Olofsson O
Department of Pediatrics, University of Göteborg, Sweden.
J Am Acad Child Adolesc Psychiatry. 1991 May;30(3):489-94. doi: 10.1097/00004583-199105000-00022.
Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.