A Case of Mosaic Tetrasomy 12p (Pallister-Killian Syndrome): Clinical Definition of Hypomelanosis of Ito among Mosaicisms for Abnormal Chromosomes

Abstract

Pallister-Killian syndrome is caused by mosaic tetrasomy 12p; the clinical features are hypomelanotic streaks along Blaschko's lines, temporal and frontal balding with woolly hair, overgrowth, and psychomotor retardation. Herein we report a case of Pallister-Killian syndrome and discuss the clinical definition of hypomelanosis of Ito, which is now considered to be general term for mosaicism showing streaks of hypopigmentation along Blaschko's line and psychomotor retardation.