Pallister-Killian syndrome: case report with pineal tumor

Am J Med Genet. 2000 Nov 6;95(1):75-8. doi: 10.1002/1096-8628(20001106)95:1<75::aid-ajmg15>3.0.co;2-j.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Brain Neoplasms / pathology
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 12 / genetics*
  • Face / abnormalities
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Isochromosomes
  • Pineal Gland / pathology
  • Pinealoma / pathology
  • Syndrome