J Korean Child Neurol Soc.  2010 Nov;18(2):338-344.

A Case of 22q13 Deletion Syndrome

Affiliations
  • 1Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea. eykim_kook@hanmail.net
  • 2Department of Radiology, Kwangju Christian Hospital, Gwangju, Korea.

Abstract

The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdeletion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic features. Due to nonspecific facial features and difficulties in detection in routine chromosome 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 developmental delay and hypotonia from the neonatal period. She was diagnosed as 22q13 deletion syndrome through a chromosomal analysis and FISH using arylsulfatase A probe.

Keyword

Chromosome deletion; Muscle hypotonia; Developmental disabilities; In situ hybridization; Fluorescence
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