Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.
Open Access
- 1 February 1990
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (2) , 135-136
- https://doi.org/10.1136/jmg.27.2.135
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).Keywords
This publication has 4 references indexed in Scilit:
- Inverted tandem duplication generates a duplication deficiency of chromosome 8pClinical Genetics, 1987
- Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22)Clinical Genetics, 1985
- INVERTED TANDEM DUPLICATION OF THE SHORT ARM OF CHROMOSOME-8 - A NON-RANDOM DENOVO STRUCTURAL-ABERRATION IN MAN - LOCALIZATION OF THE GENE FOR GLUTATHIONE-REDUCTASE IN SUBBAND 8P21.11982
- Gene dose effect: regional mapping of human glutathione reductase on chromosome 8Cytogenetic and Genome Research, 1976