Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 38 (2) , 125-130
- https://doi.org/10.1007/bf00527393
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). 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.This publication has 18 references indexed in Scilit:
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