Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability

Am J Med Genet A. 2013 Jul;161A(7):1806-12. doi: 10.1002/ajmg.a.35986. Epub 2013 May 21.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 18 / genetics
  • Electroencephalography
  • Epilepsy / drug therapy
  • Epilepsy / genetics
  • Face / abnormalities
  • Humans
  • Intellectual Disability / genetics*
  • Lamotrigine
  • Male
  • Triazines / therapeutic use
  • Trisomy / genetics*

Substances

  • Triazines
  • Lamotrigine

Supplementary concepts

  • Chromosome 18, trisomy 18p