Two Cases of Xp21 Contiguous Gene Deletion Syndrome
Journal of the Korean Academy of Rehabilitation Medicine
;
: 243-247, 2007.
Article
in Korean
| WPRIM
| ID: wpr-723978
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Hyperpigmentation
/
Gene Deletion
/
Muscle Weakness
/
Muscular Dystrophy, Duchenne
/
Dehydration
/
Lethargy
/
Glycerol Kinase
/
Muscle Hypotonia
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Academy of Rehabilitation Medicine
Year:
2007
Type:
Article
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