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Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23

✍ Scribed by J. P. Fryns; G. Heremans; J. Marien; H. Berghe


Book ID
104723367
Publisher
Springer
Year
1983
Tongue
English
Weight
131 KB
Volume
64
Category
Article
ISSN
0340-6717

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Deletion of the long arm of chromosome 8
✍ B. Dallapiccola; L. Santoro; Simonetta Trabace; M. Ramenghi; P. Mastroiacovo; E. πŸ“‚ Article πŸ“… 1977 πŸ› Springer 🌐 English βš– 642 KB

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 ass