Pallister-Killian syndrome: Review of fetal phenotype

Clin Genet. 2019 Jan;95(1):79-84. doi: 10.1111/cge.13381. Epub 2018 Jun 29.


Pallister-Killian syndrome is a multi-system sporadic disorder with developmental delay. It is a rare chromosomal abnormality involving supernumerary isochormosome 12p. The disorder exhibits tissue specific mosaicism. The first prenatal diagnosis of PKS was reported in 1985 after ultrasound detection of fetal anomalies. Since this observation, there have been about 62 reports of fetuses with PKS. In this review, we cover the prenatal aspects of PKS.

Keywords: Pallister-Killian syndrome; congenital diaphragmatic hernia; isochromosome 12 p; microarray; mosaicism; polyhydramnios; tetrasomy.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology
  • Chromosomes, Human, Pair 12 / genetics
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal

Supplementary concepts

  • Pallister Killian syndrome