De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly

Am J Med Genet. 1995 Jul 3;57(3):447-9. doi: 10.1002/ajmg.1320570317.


We report on a girl with Klippel-Feil anomaly, type A1 brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q11.2 and 17q23. The possible significance of this chromosomal abnormality is discussed.

Publication types

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

MeSH terms

  • Cervical Vertebrae / abnormalities*
  • Cervical Vertebrae / diagnostic imaging
  • Child
  • Chromosome Banding
  • Chromosomes, Human, Pair 17*
  • Chromosomes, Human, Pair 5*
  • Face / abnormalities
  • Female
  • Foot Deformities, Congenital / genetics
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Radiography
  • Translocation, Genetic*