Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

Am J Med Genet A. 2008 Dec 15;146A(24):3217-22. doi: 10.1002/ajmg.a.32570.
No abstract available

Publication types

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

MeSH terms

  • Base Pairing / genetics*
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Breakage*
  • Chromosomes, Human, Pair 1 / genetics*
  • Comparative Genomic Hybridization
  • Cytogenetic Analysis*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Sequence Deletion*