Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
Am J Med Genet
; 70(3): 216-21, 1997 Jun 13.
Article
em En
| MEDLINE
| ID: mdl-9188656
ABSTRACT
The so-called Xp21 contiguous deletion syndrome or complex glycerol kinase deficiency (GKD) usually presents with classical Duchenne muscular dystrophy (DMD) or a milder dystrophic myopathy, adrenal hypoplasia, and GKD. A number of syndromic and nonsyndromic cases of agenesis of the corpus callosum (ACC) also map to that location. To date, none of the cases of complex GKD have been associated with ACC. Here, we report on a patient with a complex phenotype as a result of the Xp21 contiguous deletion syndrome in association with ACC. Biochemical, cytogenetic, and molecular analyses were performed to detect and establish the size of the genomic deletion. It is at least 3 million base pairs in length; however, exact limits could not be determined in the present study. Nevertheless, we suggest the presence of a primary gene involved in the embryogenesis of the corpus callosum between Xp21.1 and Xp22.11.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Deleção de Genes
/
Agenesia do Corpo Caloso
/
Glicerol Quinase
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Argentina