Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome

Clin Dysmorphol. 2012 Oct;21(4):196-199. doi: 10.1097/MCD.0b013e328356d409.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Duplication / genetics*
  • Chromosomes, Human, Pair 12 / genetics*
  • Comparative Genomic Hybridization
  • Developmental Disabilities / complications
  • Developmental Disabilities / genetics*
  • Humans
  • Hypospadias / complications*
  • Hypospadias / genetics
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype
  • Seizures / complications*
  • Seizures / genetics
  • Wolf-Hirschhorn Syndrome / complications*