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Journal of the Korean Academy of Rehabilitation Medicine 2007;31(2):243-247.
Two Cases of Xp21 Contiguous Gene Deletion Syndrome.
Ye, Gwan Yu , Choi, Hwan Seok , Park, Jeong Mee , Lee, Hong Jin , Kim, Whang Min
1Department of Pediatrics, Yonsei University Wonju Collage of Medicine, Korea. hmk9210@wonju.yonsei.ac.kr
2Department of Rehabilitation Medicine, Yonsei University Wonju Collage of Medicine, Korea.
3Department of Pediatrics, Chuncheon Sacred Heart Hospital, Collage of Medicine, Hallym University, Korea.
Xp21 인접 유전자 결실 증후군 2례
예관유, 최환석, 박정미1, 이홍진2, 김황민
연세대학교 원주의과대학 소아과학교실, 1재활의학교실, 2한림대학교 의과대학 춘천성심병원 소아과
On chromosome Xp21 region, several genes such as glycerol kinase (GK) gene, adrenal hypoplasia congenita gene and Duchenne muscular dystrophy gene are located contiguously. Xp21 contiguous gene deletion syndrome involves the glycerol kinase gene deletion together with the adrenal hypoplasia congenita and/or Duchenne muscular dystrophy gene. The clinical features of a patient with a Xp21 contiguous gene deletion syndrome are sum of each disease, psychomotor retardation and lethargy for glycerol kinase deficiency, hyperpigmentation and salt wasting dehydration for congenital adrenal hypoplasia and muscular weakness and hypotonia for Duchenne muscular dystrophy. We experienced and reviewed two cases of Xp21 contiguous gene deletion syndrome with literatures. (J Korean Acad Rehab Med 2007; 31: 243-247)
Key Words: Glycerol kinase deficiency, Congenital adrenal hypoplasia, Duchenne muscular dystrophy


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