The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

Am J Med Genet A. 2009 Nov;149A(11):2569-72. doi: 10.1002/ajmg.a.33063.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Arachnoid Cysts / complications*
  • Arachnoid Cysts / genetics
  • Blood Specimen Collection
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 11 / genetics*
  • DNA / isolation & purification
  • DNA Copy Number Variations / genetics
  • Family
  • Female
  • Genome, Human / genetics
  • Genome-Wide Association Study
  • Genotype
  • Homozygote
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / genetics
  • Lissencephaly / complications*
  • Lissencephaly / genetics
  • Lod Score
  • Male
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics
  • Syndrome

Substances

  • DNA