Gardner syndrome in a man with an interstitial deletion of 5q

Am J Med Genet. 1986 Nov;25(3):473-6. doi: 10.1002/ajmg.1320250309.


Chromosome analysis of blood cells from a 42-year-old white male with mental retardation, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(q13q15) or del(5)(q15q22). A polymorphic chromosome #22 with enlarged satellites was inherited from the father, who is phenotypically normal, and was probably unrelated to the congenital malformations. This is the first report of a Gardner syndrome patient with an interstitial deletion of 5q.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Colonic Neoplasms / genetics
  • Gallbladder / abnormalities
  • Gardner Syndrome / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Liver / abnormalities
  • Male