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KMID : 1148020130380020092
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조선대학교의대논문집
2013 Volume.38 No. 2 p.92 ~ p.95
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A Case of Xp21 Contiguous Gene Deletion Syndrome
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Joo Min-A
Choi Min-Seon
Kim Eun-Young
Park Sang-Kee
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Abstract
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Xp21 contiguous gene deletion syndrome involves the glycerol kinase (GK) gene, adrenal hypoplasia congenital (AHC) geneand Duchenne's muscular dystrophy (DMD) gene, which are located contiguously on Xp21 chromosome. The clinicalfeatures of a patient with Xp21 contiguous gene deletion syndrome are the sum of those of each disease; psychomotor retardationand lethargy for GK deficiency, hyperpigmentation and salt wasting dehydration for AHC, and muscular weaknessand hypotonia for DMD. Chromosomal microarray analysis is performed for confirmation of Xp21 contiguous gene deletionsyndrome. The goal of treatment is to control each of the diseases. We experienced and reported on a neonatal case of Xp21contiguous gene deletion syndrome of AHC, GK deficiency, and DMD.
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KEYWORD
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Xp21 Contiguous Gene Deletion Syndrome, Glycerol kinase deficiency, Adrenal hypoplasia congenital, Duchenne's muscular dystrophy
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