Pallister-Killian syndrome: case report with pineal tumor.
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.
Mauceri
L
L
Division of Pediatric Neurology, University of Catania, Catania, Italy.
Sorge
G
G
Incorpora
G
G
Pavone
L
L
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D001932:Brain Neoplasms / Q000473:pathology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D018404:Isochromosomes; D010870:Pineal Gland / Q000473:pathology; D010871:Pinealoma / Q000473:pathology; D013577:Syndrome