Educational Content: This article is for informational purposes only and does not constitute medical advice. Always consult a healthcare provider for diagnosis and treatment.
Definition of Pallister-Killian syndrome
Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026
Pallister-Killian syndrome: A condition with multiple malformations at birth and mental retardation due to isochromosome 12p mosaicism (an abnormal chromosome #12 in some cells).