Neurofibromatosis in a man with a ring 22: in situ hybridization studies

Cancer Genet Cytogenet. 1987 Mar;25(1):169-74. doi: 10.1016/0165-4608(87)90173-7.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 22*
  • Genetic Markers
  • Humans
  • Karyotyping
  • Lymphocytes / ultrastructure
  • Male
  • Neurofibromatosis 1 / genetics*
  • Nucleic Acid Hybridization
  • Oncogenes
  • Ring Chromosomes*
  • Skin Neoplasms / genetics*

Substances

  • Genetic Markers