Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. [electronic resource]
- Journal of medical genetics Dec 2003
- e128 p. digital
Publication Type: Case Reports; Letter; Research Support, U.S. Gov't, P.H.S.
1468-6244
10.1136/jmg.40.12.e128 doi
Brain--abnormalities Brain Diseases--diagnosis Cerebral Cortex Choristoma--diagnosis Chromosome Breakage Chromosome Mapping Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 6 DNA Mutational Analysis Genetic Predisposition to Disease Glutathione Transferase--genetics Humans Lateral Ventricles Magnetic Resonance Imaging Male Pedigree Phenotype Translocation, Genetic alpha-Mannosidase--genetics