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Miller-Dieker syndrome and monosomy 17p13:a new case

✍ Scribed by A. Selypes; A. László


Book ID
104778917
Publisher
Springer
Year
1988
Tongue
English
Weight
467 KB
Volume
80
Category
Article
ISSN
0340-6717

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✦ Synopsis


A 12-year-old boy is described with multiple anomalies and a de novo terminal deletion of 17p13. Based on clinical examination, the Miller-Dieker syndrome was diagnosed.


📜 SIMILAR VOLUMES


Unbalanced translocation (15;17)(q13;p13
✍ Elder, F. F. B. ;Nichols, M. M. ;Hood, O. J. ;Harrison, W. R. ;Opitz, John M. ;R 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

We studied after death a 3-month-old girl whose karyotype was 4S,XX,-lS, -17, +der(17),t(15; 17)(q13;p13.3) and thus combines abnormalities of chromosome 15 associated with the Prader-Willi syndrome and of chromosome 17 associated with the Miller-Dieker syndrome. This infant had several manifestatio