Annals of Rehabilitation Medicine

Case Report: J Korean Acad Rehabil Med. 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.

Abstract: 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)

Keywords :Glycerol kinase deficiency, Congenital adrenal hypoplasia, Duchenne muscular dystrophy