Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

Am J Med Genet A. 2009 Mar;149A(3):546-8. doi: 10.1002/ajmg.a.32695.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosomes, Human, Pair 12*
  • Comparative Genomic Hybridization
  • Cytogenetic Analysis
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Gene Duplication*
  • Genome, Human
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Oligonucleotide Array Sequence Analysis
  • Phenotype*
  • Wolf-Hirschhorn Syndrome / genetics*

Substances

  • DNA