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Pallister-Killian syndrome: case report with pineal tumor
L Mauceri1, G Sorge, G Incorpora
1Division of Pediatric Neurology, University of Catania, Catania, Italy.
American Journal of Medical Genetics
|November 14, 2000
Abstract:
Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor.