Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion

J Med Genet. 2003 May;40(5):e60. doi: 10.1136/jmg.40.5.e60.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Breakage / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5 / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Color
  • Female
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Infant
  • Infant, Newborn
  • Male
  • Mutagenesis, Insertional / genetics*
  • Phenotype
  • Physical Chromosome Mapping*