De novo duplication and deletions at 7q in a three-generation family

Am J Med Genet A. 2012 Jun;158A(6):1493-7. doi: 10.1002/ajmg.a.35332. Epub 2012 May 10.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • Comparative Genomic Hybridization
  • Facies
  • Family
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotype
  • Male
  • Pedigree
  • Trisomy*

Supplementary concepts

  • Chromosome 7, trisomy 7q