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