Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24

Am J Med Genet. 1993 Feb 15;45(4):450-5. doi: 10.1002/ajmg.1320450411.

Abstract

Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s).

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Banding
  • Chromosomes, Human, Pair 18*
  • Chromosomes, Human, Pair 8*
  • Female
  • Fingers / abnormalities
  • Hair / abnormalities
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Nose / abnormalities
  • Osteochondrodysplasias / genetics
  • Pelvis / abnormalities
  • Syndrome
  • Translocation, Genetic*