Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

Am J Med Genet A. 2005 Jun 15;135(3):339-41. doi: 10.1002/ajmg.a.30735.
No abstract available

Publication types

  • Letter

MeSH terms

  • Chromosome Breakage / genetics
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 21 / genetics
  • Down Syndrome / genetics
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Osteoporosis / genetics
  • Syndrome
  • Translocation, Genetic