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.
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.