- Case Report
- A Case of Pallister-Killian Syndrome
-
Ju Suk Lee, Sung Hun Kim, Jung A Choi, Sang Yuk Nam, Su Young Kim
-
Clin Exp Pediatr. 2000;43(2):274-277. Published online February 15, 2000
-
|
|
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... |
-
-
|
