Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).
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.
D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005980:Glutathione Reductase / Q000097:blood; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014178:Translocation, Genetic
D005980:Glutathione Reductase