J Korean Pediatr Soc.  2000 Mar;43(3):417-422.

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

• Chung HJ
• Kim YR
• Han MY
• Lee SH

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.

Keyword

Prader-Willi and Angelman syndrome; FISH; Floppy infants

MeSH Terms

Angelman Syndrome*
Cytogenetics
Diagnosis
Early Diagnosis
Fluorescence
Humans
In Situ Hybridization
Infant
Infant, Newborn*
Intensive Care, Neonatal
Molecular Biology
Muscle Hypotonia
Parents
Prader-Willi Syndrome