Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia

Am J Med Genet. 1993 Jul 1;46(6):630-1. doi: 10.1002/ajmg.1320460605.


We describe a male patient with a pericentric inversion of chromosome 6 and classic cleidocranial dysplasia (CCD), mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. We conclude that there is a causal relationship between the chromosomal disorder and the CCD.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 6*
  • Cleidocranial Dysplasia / genetics*
  • Face / abnormalities*
  • Humans
  • Male