염색체 22q13 결실 증후군 1례

A Case of 22q13 Deletion Syndrome

The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdele- tion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic fea- tures. Due to nonspecific facial features and difficulties in detection in routine chro- mosome analysis, this chromosome deletion syndrome has gone under-diagnosed. Fluorescence in situ hybridization (FISH) is required to confirm the presence of this deletion. Here we report the first case of 22q13 deletion syndrome in Korea. An 18-month-old girl was admitted to a pediatric clinic due to severe develop-mental delay and hypotonia from the neonatal period. She was diagnosed as 22q13 deletion syndrome through a chromosomal analysis and FISH using arylsulfatase A probe.