A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region

Am J Med Genet A. 2008 Jan 1;146A(1):124-7. doi: 10.1002/ajmg.a.31974.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aneuploidy
  • Centromere
  • Chromosome Banding
  • Chromosome Breakage
  • Chromosome Painting
  • Chromosomes, Human, Pair 13 / genetics
  • Chromosomes, Human, Pair 21*
  • Down Syndrome / genetics*
  • Down Syndrome / pathology
  • Female
  • Fluorescent Dyes
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Metaphase
  • Trisomy*

Substances

  • Fluorescent Dyes