Case Reports
doi: 10.1007/BF00527393.
Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)
- PMID: 908558
- DOI: 10.1007/BF00527393
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Case Reports
Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)
Hum Genet.
.
Abstract
Report is given of a mentally retarded and dysmorphic patient with a partial monosomy 8q, resulting from a de novo translocation t(4;8)(q13;q213). Oetermination of erythrocyte glutathione reductase (E-GSR) activity in the proposita shows activity in the normal range. Previous evidence for of the assignment of E-GSR locus to the short arm of chromosome 8 is confirmed.
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