NF1 (17q11) / MPO (17q22) probe hybridized to patient material showing a deletion of NF1 gene region at 17q11 (1R2G).
NF1, or Von Recklinghausen disease, is one of the most common hereditary neurocutaneous disorders in humans and one of the most common single gene syndromes. Clinically, NF1 is characterized by café-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bone defects, Lisch nodules and tumors of the central nervous system. The responsible gene, NF1 (neurofibromin), was identified on chromosome 17q11. Whole NF1 gene deletions occur in 4%-5% of individuals with NF1 and can be detected by FISH analysis. The NF1 (17q11) region probe is optimized to detect copy numbers of the NF1 gene region at 17q11.2. The MPO region specific FISH probe at 17q22 is included as control probe.
References: Riva P et al, 2000, Am. J. Hum. Genet., 66; 100-109. Dorschner et al, 2000, Hum. Mol. Genet., 9; 35-46.