A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.
Genet Couns
; 11(3): 261-5, 2000.
Article
em En
| MEDLINE
| ID: mdl-11043434
ABSTRACT
A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient We describe a patient suffering from encephalomyopathy with overlapping symptoms, including MELAS and Kearn-Sayre syndrome features. Mutations in tRNA LEU (UUR) were not found in mtDNA of blood cells, suggesting a different genetic defect. Cytogenetic studies revealed a paternal inherited pericentric inversion of chromosome 10 (p13;q22) pat. Although the presence of the same inversion in the father and in the apparently asymptomatic sister does rather suggest that the concurrence of the mitochondrial disease in the patient was due to chance, some alternative explanations to associate both events might be proposed.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 10
/
Aberrações Cromossômicas
/
Síndrome MELAS
/
Inversão Cromossômica
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Espanha