A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome

Am J Med Genet A. 2011 Feb;155A(2):450-4. doi: 10.1002/ajmg.a.33458.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosomes, Human, Pair 5 / genetics*
  • Chromosomes, Human, Pair 9 / genetics
  • Cri-du-Chat Syndrome / genetics*
  • Cri-du-Chat Syndrome / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Molecular Probe Techniques
  • Nucleic Acid Amplification Techniques / methods
  • Phenotype*
  • Trisomy / genetics

Supplementary concepts

  • Chromosome 9, partial trisomy 9p