Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient

Am J Med Genet A. 2014 Jul;164A(7):1863-6. doi: 10.1002/ajmg.a.36532. Epub 2014 Apr 3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 15 / genetics
  • Comparative Genomic Hybridization
  • Electroencephalography
  • Facies
  • Humans
  • Infant
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Patient Outcome Assessment
  • Phenotype
  • Seizures / diagnosis*
  • Seizures / genetics*
  • Spasms, Infantile / diagnosis*
  • Spasms, Infantile / drug therapy
  • Spasms, Infantile / genetics*

Supplementary concepts

  • Chromosome 15q13.3 Microdeletion Syndrome