Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes

Hum Genet. 1990 Dec;86(2):173-4. doi: 10.1007/BF00197700.

Abstract

The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or related, cases of translocation with breakpoints in heterochromatic regions of human chromosomes.

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 17*
  • DNA Probes
  • DNA, Satellite / genetics*
  • Humans
  • Karyotyping
  • Male
  • Nucleic Acid Hybridization
  • Translocation, Genetic*

Substances

  • DNA Probes
  • DNA, Satellite