Neurofibromatosis in a man with a ring 22: in situ hybridization studies.
In situ hybridization with a c-sis probe was performed on peripheral lymphocytes of a man with neurofibromatosis and a ring 22 chromosome. Hybridization was observed on both the normal #22 and the ring 22, indicating that the patient is not constitutionally hemizygous for c-sis. The implications of a ring 22 constitution and the neurofibromatosis phenotype are discussed.
D000328:Adult; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D009857:Oncogenes; D012303:Ring Chromosomes; D012878:Skin Neoplasms / Q000235:genetics*
D005819:Genetic Markers