Distal deletion of the long arm of chromosome 6: a specific phenotype?

Am J Med Genet. 1986 May;24(1):175-8. doi: 10.1002/ajmg.1320240122.


We report on an 8-month-old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3----6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia. The similarity with a previously reported patient with 6q interstitial deletion is discussed.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, 6-12 and X*
  • Face / abnormalities
  • Female
  • Genitalia, Female / abnormalities
  • Humans
  • Infant
  • Muscle Hypotonia / genetics
  • Obesity / genetics
  • Phenotype
  • Skull / abnormalities
  • Translocation, Genetic