A final word on the tricho-rhino-phalangeal syndromes

Clin Genet. 1987 Apr;31(4):273-5. doi: 10.1111/j.1399-0004.1987.tb02806.x.

Abstract

Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities*
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 8
  • Hair / abnormalities*
  • Humans
  • Male
  • Mosaicism
  • Nose / abnormalities*
  • Syndrome