, Volume 38, Issue 2, pp 125-130

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

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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).

Determination of erythrocyte gluthathione 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.