염색체 22q13 결실 증후군 1례

• 영문명: A Case of 22q13 Deletion Syndrome
• 발행기관: 대한소아신경학회
• 저자명: 나세린(Se Rin Na) 임봉칠(Bong Chil Im) 유주희(Ju Hee You) 조형민(Hyung Min Cho) 유은정(Eun Jung You) 김세종(Se Jong Kim) 김경심(Kyoung Sim Kim) 김용욱(Yong Wook Kim) 김은영(Eun Young Kim)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제18권 제2호, 338~344쪽, 전체 7쪽
• 주제분류: 의약학 > 소아과학
• 파일형태: PDF
• 발행일자: 2010.11.30

영문 초록

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.

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키워드

Chromosome deletion Muscle hypotonia Developmental disabilities In situ hybridization Fluorescence