A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH

Am J Med Genet A. 2006 May 15;140(10):1111-3. doi: 10.1002/ajmg.a.31190.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chromosome Banding
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Interphase / genetics
  • Karyotyping
  • Male
  • Mosaicism*
  • Mouth Mucosa / metabolism
  • Mouth Mucosa / pathology
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • Translocation, Genetic*