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

J Med Genet. 2003 Dec;40(12):e128. doi: 10.1136/jmg.40.12.e128.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Brain / abnormalities*
  • Brain / pathology
  • Brain Diseases / diagnosis
  • Brain Diseases / genetics*
  • Cerebral Cortex
  • Choristoma / diagnosis
  • Choristoma / genetics*
  • Chromosome Breakage
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 6
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Glutathione Transferase / genetics*
  • Glutathione Transferase / physiology
  • Humans
  • Lateral Ventricles*
  • Magnetic Resonance Imaging
  • Male
  • Pedigree
  • Phenotype
  • Translocation, Genetic*
  • alpha-Mannosidase / genetics*
  • alpha-Mannosidase / physiology

Substances

  • Glutathione Transferase
  • alpha-Mannosidase

Associated data

  • OMIM/300017