KMID : 0391520100180020338
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Journal of the Korean Child Neurology Society 2010 Volume.18 No. 2 p.338 ~ p.344
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A Case of 22q13 Deletion Syndrome
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Na Se-Rin
Im Bong-Chil Yoo Ju-Hee Cho Hyoung-Min Yoo Eun-Jung Kim Se-Jong Kim Kyoung-Sim Kim Yong-Wook Kim Eun-Young
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Abstract
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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.
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KEYWORD
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Chromosome deletion, Muscle hypotonia, Developmental disabilities, In situ hybridization, Fluorescence
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