A Case of 22q13 Deletion Syndrome.

Na,  Se Rin; Im,  Bong Chil; You,  Ju Hee; Cho,  Hyung Min; You,  Eun Jung; Kim,  Se Jong; Kim,  Kyoung Sim; Kim,  Yong Wook; Kim,  Eun Young

Case Report

Journal of the Korean Child Neurology Society 2010;18(2):338-344.
Published online November 30, 2010.

A Case of 22q13 Deletion Syndrome.

Se Rin Na, Bong Chil Im, Ju Hee You, Hyung Min Cho, Eun Jung You, Se Jong Kim, Kyoung Sim Kim, Yong Wook Kim, Eun Young Kim

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.

Key Words: Chromosome deletion, Muscle hypotonia, Developmental disabilities, In situ hybridization, Fluorescence