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Case Reports
. 1977 Sep 22;38(2):125-30.
doi: 10.1007/BF00527393.

Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)

B Dallapiccola, L Santoro, S Trabace, M Ramenghi, P Mastroiacovo, E Gandini
Case Reports

Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)

B Dallapiccola et al. 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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References

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