Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation

Am J Med Genet A. 2006 May 1;140(9):1013-5. doi: 10.1002/ajmg.a.31198.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Aged
  • Child
  • Chromosome Banding
  • Chromosomes, Human, Pair 5 / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Family Health
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Klippel-Feil Syndrome / genetics*
  • Klippel-Feil Syndrome / pathology
  • Male
  • Microcephaly / pathology
  • Pedigree
  • Translocation, Genetic*