Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies

J Med Genet. 2002 Sep;39(9):e53. doi: 10.1136/jmg.39.9.e53.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 10 / genetics
  • Chromosomes, Human, Pair 13 / genetics
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 4 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Congenital Abnormalities / pathology*
  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Karyotyping
  • Male
  • Pedigree
  • Telomere / genetics*
  • Translocation, Genetic