Two Cases of Xp21 Contiguous Gene Deletion Syndrome
Journal of the Korean Academy of Rehabilitation Medicine
; : 243-247, 2007.
Article
em Ko
| WPRIM
| ID: wpr-723978
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Hiperpigmentação
/
Deleção de Genes
/
Debilidade Muscular
/
Distrofia Muscular de Duchenne
/
Desidratação
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Letargia
/
Glicerol Quinase
/
Hipotonia Muscular
Limite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Academy of Rehabilitation Medicine
Ano de publicação:
2007
Tipo de documento:
Article