De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

Am J Med Genet A. 2011 Feb;155A(2):445-9. doi: 10.1002/ajmg.a.33820. Epub 2011 Jan 13.
No abstract available

Publication types

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

MeSH terms

  • Anorectal Malformations
  • Anus, Imperforate / genetics
  • Anus, Imperforate / pathology
  • Child
  • Chromosome Duplication / genetics*
  • Chromosomes, Human, Pair 18 / genetics*
  • Female
  • Genotype
  • Humans
  • Karyotyping
  • Male
  • Mutation / genetics
  • Phenotype*
  • Polymorphism, Single Nucleotide / genetics