Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 2319583.
- Also identified by PMC identifier 1016937.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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).
Medical subject headings
- Chromosomes, Human, Pair 8
- Glutathione Reductase
- Trisomy