del5p/dup5q in a 'cri du chat' patient without parental chromosomal rearrangement

Am J Med Genet A. 2006 May 1;140(9):1016-20. doi: 10.1002/ajmg.a.31220.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5 / genetics*
  • Cri-du-Chat Syndrome / genetics*
  • Cri-du-Chat Syndrome / pathology
  • Face / abnormalities
  • Fatal Outcome
  • Gene Duplication
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male
  • Models, Genetic