Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q

Am J Med Genet A. 2008 Mar 15;146A(6):795-8. doi: 10.1002/ajmg.a.32222.
No abstract available

Publication types

  • Case Reports
  • Evaluation Study

MeSH terms

  • Abortion, Habitual / etiology*
  • Abortion, Habitual / genetics*
  • Adult
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1*
  • Family
  • Female
  • Genetic Testing / methods*
  • Humans
  • Polymorphism, Genetic / physiology*
  • Telomere / genetics*
  • Translocation, Genetic