title: A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.
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.
authors.affiliation: Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sanchez
authors.forename: P J
authors.initials: PJ
authors.lastname: Garcia-Ruiz
authors.forename: M
authors.initials: M
authors.lastname: Rodriguez de Alba
authors.forename: J
authors.initials: J
authors.lastname: Montoya
authors.forename: A
authors.initials: A
authors.lastname: Playan
authors.forename: J L
authors.initials: JL
authors.lastname: Sarasa
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: R
authors.initials: R
authors.lastname: Sanz
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D000328:Adult; D001706:Biopsy; D002869:Chromosome Aberrations / Q000235:genetics*; D019457:Chromosome Breakage / Q000235:genetics; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial