Molecular cytogenetic characterization of an 8p22-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities

Am J Med Genet A. 2008 Nov 15;146A(22):2950-4. doi: 10.1002/ajmg.a.32522.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Aberrations*
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Learning Disabilities / genetics*
  • Puberty, Delayed / genetics*
  • Young Adult