Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion

Am J Med Genet A. 2010 Dec;152A(12):3197-202. doi: 10.1002/ajmg.a.33741.
No abstract available

Publication types

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

MeSH terms

  • Cells, Cultured
  • Chromosome Breakage
  • Chromosome Deletion*
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 20*
  • Cytogenetic Analysis
  • DNA Copy Number Variations
  • Developmental Disabilities / genetics
  • Female
  • Humans
  • Lymphocytes / cytology
  • Metaphase
  • Mosaicism
  • Mothers
  • Polymorphism, Single Nucleotide
  • Trisomy
  • Young Adult