A Case of Pallister-Killian Syndrome

Since Pallister first described 12p tetrasomy syndrome in 1977, approximately 50 patients have been described. Chromosomal study of lymphocyte is normal in most cases, but fibroblasts usually reveal 12p tetrasomy in chromosomal study. We report on a 17-month-old male infant with Pallister-Killian syndrome. He was admitted in our hospital for investigation of developmental delay and myoclonic seizure. He was diagnosed with Killian syndrome by clinical feature and 12p isochromosome in chromosomal study. He had multiple anomalies such as frontal bossing, temporofrontal balding, hypertelorism, simian crease, and accessory nipple. He died at home at 25 months old.