Two Cases of Xp21 Contiguous Gene Deletion Syndrome.
- Author:
Gwan Yu YE
1
;
Hwan Seok CHOI
;
Jeong Mee PARK
;
Hong Jin LEE
;
Whang Min KIM
Author Information
1. Department of Pediatrics, Yonsei University Wonju Collage of Medicine, Korea. hmk9210@wonju.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Glycerol kinase deficiency;
Congenital adrenal hypoplasia;
Duchenne muscular dystrophy
- MeSH:
Dehydration;
Gene Deletion*;
Glycerol Kinase;
Humans;
Hyperpigmentation;
Lethargy;
Muscle Hypotonia;
Muscle Weakness;
Muscular Dystrophy, Duchenne
- From:Journal of the Korean Academy of Rehabilitation Medicine
2007;31(2):243-247
- CountryRepublic of Korea
- Language:Korean
-
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.
