A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region

Hum Genet. 1997 Sep;100(3-4):334-8. doi: 10.1007/s004390050512.


Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 7*
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • Osteochondrodysplasias / genetics*
  • Syndrome
  • Translocation, Genetic*