Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection

Am J Hum Genet. 2003 Jan;72(1):218-9. doi: 10.1086/346030.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Angelman Syndrome / genetics*
  • Autoantigens
  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics
  • DNA Methylation
  • Female
  • Genomic Imprinting / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Ribonucleoproteins, Small Nuclear / genetics
  • Sperm Injections, Intracytoplasmic / adverse effects*
  • snRNP Core Proteins

Substances

  • Autoantigens
  • Ribonucleoproteins, Small Nuclear
  • snRNP Core Proteins

Associated data

  • OMIM/105830
  • OMIM/182279