Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.
At least 16 cases of inversion tandem duplications of the short arm of chromosome 8 have been reported. Structural rearrangements of chromosome 8 have made it possible to localise the gene for glutathione reductase (GSR) to 8p21.1. We report here on a 16 month old boy with mental retardation with partial trisomy 8 owing to a de novo inv dup(8)(p12----p23.1).
Nevin
N C
NC
Department of Medical Genetics, Queen's University of Belfast, Belfast City Hospital.
Morrison
P J
PJ
Jones
J
J
Reid
M M
MM
D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D005147:Facial Bones / Q000002:abnormalities; D005980:Glutathione Reductase / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D012886:Skull / Q000002:abnormalities; D014314:Trisomy
D005980:Glutathione Reductase