A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient

Authors
Lorda-Sanchez, I Garcia-Ruiz, PJ De Alba, MR Montoya, J Playan, A Sarasa, JL Trujillo, MJ Sanz, R Ramos, C Ayuso, C
Citation
I. Lorda-sanchez et al., A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient, GEN COUNSEL, 11(3), 2000, pp. 261-265
Citations number
14
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
10158146 → ACNP
Volume
11
Issue
3
Year of publication
2000
Pages
261 - 265
Database
ISI
SICI code
1015-8146(2000)11:3<261:AMPAAP>2.0.ZU;2-I
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. M utations in tRNA LEU (UUR) were not found in mtDNA of blood cells, suggesti ng a different genetic defect. Cytogenetic studies revealed a paternal inhe rited pericentric inversion of chromosome 10 (p13:q22) pat. Although the pr esence of the same inversion in the father and in the apparently asymptomat ic sister does rather suggest that the concurrence of the mitochondrial dis ease in the patient was due to chance, some alternative explanations to ass ociate both events might be proposed.