𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region

✍ Scribed by C. A. Brandt; Hermann-Josef Lüdecke; Johnny Hindkjær; Helle Strømkjær; Daniel Pinkel; Troels Herlin; Lars Bolund; Ursula Friedrich

Publisher
Springer
Year
1997
Tongue
English
Weight
240 KB
Volume
100
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletion of the long arm of chromosome 8
Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)
✍ B. Dallapiccola; L. Santoro; Simonetta Trabace; M. Ramenghi; P. Mastroiacovo; E. 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 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

Familial translocation t(Y;15)(q12;p11)
Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13
✍ Eliez, Stephan; Morris, Michael A.; Dahoun-Hadorn, Sophie; DeLozier-Blanchet, C. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 351 KB 👁 1 views

We describe a 17-year-old girl with mild Prader-Willi syndrome (PWS) due to 15q11-q13 deletion. The deletion occurred on a paternal chromosome 15 already involved in a translocation, t(Y;15)(q12;p11), the latter being present in five other, phenotypically normal individuals in three generations. Thi