Pallister-Killian syndrome: Case report with pineal tumor

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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. (C) 2000 Wiley-Liss, Inc.

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Mauceri, L., Sorge, G., Incorpora, G., & Pavone, L. (2000). Pallister-Killian syndrome: Case report with pineal tumor. American Journal of Medical Genetics, 95(1), 75–78. https://doi.org/10.1002/1096-8628(20001106)95:1<75::AID-AJMG15>3.0.CO;2-J

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