Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13

Am J Med Genet. 1989 Jan;32(1):133-5. doi: 10.1002/ajmg.1320320128.

Abstract

Here we report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 8 [46,XY,del(8)(pter----q23.3::q24.13----qter)]. He had the facial features of the tricho-rhino-phalangeal (TRP) syndrome and severe mental retardation, but lacked multiple exostoses. This is the first report with such a peculiar combination of abnormalities and interstitial deletion of 8q.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 8*
  • Exostoses, Multiple Hereditary / genetics*
  • Facial Expression
  • Fingers / abnormalities
  • Hair / abnormalities
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Nose / abnormalities
  • Phenotype
  • Syndrome