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.
Leeflang
E P
EP
Marsh
S E
SE
Parrini
E
E
Moro
F
F
Pilz
D
D
Dobyns
W B
WB
Guerrini
R
R
Wheless
J W
JW
Gleeson
J G
JG
D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002540:Cerebral Cortex; D002828:Choristoma / Q000175:diagnosis / Q000235:genetics*; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005982:Glutathione Transferase / Q000235:genetics* / Q000502:physiology; D006801:Humans; D020547:Lateral Ventricles; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D043323:alpha-Mannosidase / Q000235:genetics* / Q000502:physiology
D005982:Glutathione Transferase; D043323:alpha-Mannosidase