Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213) |
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| Authors: | B Dallapiccola L Santoro Simonetta Trabace M Ramenghi P Mastroiacovo E Gandini |
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| Institution: | (1) Cattedra di Genetica Medica, Università di Roma, Italy;(2) Divisione di Pediatria, Ospedale Civile, Ascoli Piceno, Italy;(3) Clinica Pediatria, Unviersità Cattolica, Roma, Italy |
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| Abstract: | Summary 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. |
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