Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints

Sex Dev. 2007;1(1):35-41. doi: 10.1159/000096237.

Abstract

A familial reciprocal translocation associated with severe macromastia has been characterized by molecular cytogenetic and molecular analysis. Cloning of the translocation breakpoints revealed that no known gene has been disrupted by this translocation. Therefore, a position effect compromising the regulation of a still to be identified gene in the vicinity of the breakpoints can be assumed.

MeSH terms

  • Base Sequence
  • Breast Diseases / genetics*
  • Chromosome Breakage*
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Cloning, Molecular
  • DNA Probes
  • Female
  • Genome, Human
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Restriction Mapping
  • Translocation, Genetic / genetics*

Substances

  • DNA Probes