An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism

Am J Med Genet A. 2010 May;152A(5):1318-21. doi: 10.1002/ajmg.a.33355.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Aberrations
  • Chromosome Banding
  • Chromosomes, Human, Pair 2 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Comparative Genomic Hybridization
  • Developmental Disabilities / genetics*
  • Face / abnormalities*
  • Hearing Loss / genetics*
  • Humans
  • Male
  • Translocation, Genetic*