𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region

✍ Scribed by Cristina Gervasini; Angela Bentivegna; Marco Venturin; Lucia Corrado; Lidia Larizza; Paola Riva


Book ID
106133665
Publisher
Springer
Year
2002
Tongue
English
Weight
195 KB
Volume
110
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A novel mutation L1425p in the GAP-regio
✍ Hartmut Peters; D. Hess; R. Fahsold; M. SchΓΌlke πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 43 KB πŸ‘ 1 views

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an incidence of between 1: 3000 and 1: 4000. Common clinical signs include more than six cafΓ©-au-lait spots, multiple cutaneous neurofibromas and iris Lisch nodules. Rarer are skeletal anomalies, learning disabilities and an incre

Somatic mosaicism of a greater than 1.7-
✍ Streubel, Berthold; Latta, Elisabeth; Kehrer-Sawatzki, Hildegard; Hoffmann, Geor πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 19 KB πŸ‘ 3 views

We report on a third case with neurofibromatosis type 1 (NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa banded chromosomes and was confirmed by fluorescence in situ hybridization using the cosmids CO919 from the 5 region, GO21