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KMID : 0361420070310020243
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Journal of Korean Academy of Rehabilitation Medicine
2007 Volume.31 No. 2 p.243 ~ p.247
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Two Cases of Xp21 Contiguous Gene Deletion Syndrome
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Ye Gwan-Yu
Park Jeong-Mee
Kim Hwang-Min
Choi Hwan-Seok
Lee Hong-Jin
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Abstract
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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.
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KEYWORD
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Glycerol kinase deficiency, Congenital adrenal hypoplasia, Duchenne muscular dystrophy
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