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

✍ Scribed by B. Dallapiccola; L. Santoro; Simonetta Trabace; M. Ramenghi; P. Mastroiacovo; E. Gandini

Publisher: Springer
Year: 1977
Tongue: English
Weight: 642 KB
Volume: 38
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00527393

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✦ Synopsis

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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