J Korean Pediatr Soc.
2000 Feb;43(2):274-277.
A Case of Pallister-Killian Syndrome
- Affiliations
-
- 1Department of Pediatrics,Pusan National University College of Medicine, Pusan, Korea.
Abstract
- 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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Detection of the Pallister-Killian Syndrome by G-Banding and FISH in Cultured Skin Fibroblasts
- Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome
- A Case of Tetrasomy 12p Diagnosed Prenatally
- Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation
- Surgical Experience with Killian-Jamieson Diverticulum: A case report
