Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

J Med Genet. 2002 Apr;39(4):e17. doi: 10.1136/jmg.39.4.e17.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Cytogenetic Analysis / methods
  • Developmental Disabilities / genetics
  • Female
  • Humans
  • Language Development Disorders / genetics*
  • Male
  • Ring Chromosomes*
  • Syndrome
  • Telomere / genetics*