All issues > Volume 43(3); 2000

Case Report

J Korean Pediatr Soc. 2000;43(3):417-422. Published online March 15, 2000.

Five Cases of Prader-Willi or Angelman Syndrome Diagnosed by FISH in Neonate and Infancy

Hee Jung HJ Chung¹, Young Rae YR Kim², Man Yong MY Han², Sook Hwan SH Lee³

¹Department of Pediatrics, NHIC Ilsan Hospital, Kyunggi, Korea,
²Department of Pediatrics, Human Genetic Center† of Cha General Hospital, Pochon CHA University, Seoul, Korea
³Department of Obstetrics & Gynecology, Human Genetic Center† of Cha General Hospital, Pochon CHA University, Seoul, Korea

Abstract

The Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features do not present in this early period. Recently, we experienced 5 cases of PWS/AS, confirmed by fluorescence in situ hybridization (FISH) study in neonates and infants admitted to neonatal intensive care unit due to hypotonia and feeding problems. We believe that these syndromes are far more common than previously thought, and report thes 5 cases to emphasize the importance of early diagnosis in order to provide appropriate counselling for the parents. We recommend molecular genetic studies of PWS/ AS in floppy infants who have feeding problems during the neonate stage and infancy.

Keywords :Prader-Willi and Angelman syndrome, FISH, Floppy infants