Leeflang, E P

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