Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

J Med Genet. 2001 Mar;38(3):175-8. doi: 10.1136/jmg.38.3.175.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1 / genetics*
  • Family Health
  • Fatal Outcome
  • Female
  • Fetus
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Male
  • Phenotype
  • Telomere / genetics