A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay

J Genet. 2014 Apr;93(1):159-62. doi: 10.1007/s12041-014-0318-7.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosome Deletion*
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 4*
  • Chromosomes, Human, Pair 5*
  • DNA Copy Number Variations
  • Facies
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Karyotype
  • Karyotyping
  • Language Development Disorders / diagnosis
  • Language Development Disorders / genetics*
  • Male
  • Phenotype
  • Young Adult