Xp21 인접 유전자 결실 증후군 1례

• 영문명: A Case of Xp21 Contiguous Gene Deletion Syndrome
• 발행기관: 조선대학교 의학연구원
• 저자명: 주민아(Min A Joo) 최민선(Min Sun Choi) 김은영(Eun Young Kim) 박상기(Sang Kee Park)
• 간행물 정보: 『The Medical Journal of Chosun University』제38권 제2호, 92~95쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2013.07.31

영문 초록

Xp21 contiguous gene deletion syndrome involves the glycerol kinase (GK) gene, adrenal hypoplasia congenital (AHC) gene and Duchenne s muscular dystrophy (DMD) gene, which are located contiguously on Xp21 chromosome. The clinical features of a patient with Xp21 contiguous gene deletion syndrome are the sum of those of each disease; psychomotor retardation and lethargy for GK deficiency, hyperpigmentation and salt wasting dehydration for AHC, and muscular weakness and hypotonia for DMD. Chromosomal microarray analysis is performed for confirmation of Xp21 contiguous gene deletion syndrome. The goal of treatment is to control each of the diseases. We experienced and reported on a neonatal case of Xp21 contiguous gene deletion syndrome of AHC, GK deficiency, and DMD.

목차

서론

증례

고찰

키워드

Xp21 Contiguous Gene Deletion Syndrome Glycerol kinase deficiency Adrenal hypoplasia congenital Duchenne s muscular dystrophy