Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

J Med Genet. 2001 Jun;38(6):417-20. doi: 10.1136/jmg.38.6.417.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Female
  • Gene Rearrangement*
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Telomere / genetics*
  • Translocation, Genetic