Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15

Liknande verk

• Prader–Willi and Angelman syndromes: genetic counseling
  av: Camprubí, Cristina, et al.
  Publicerad: (2010)
• A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction
  av: Roberts, S, et al.
  Publicerad: (2002)
• A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype
  av: Maggouta, F, et al.
  Publicerad: (2003)
• Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases
  av: Horváth, Emese, et al.
  Publicerad: (2013)
• Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect
  av: Brockmann, K, et al.
  Publicerad: (2002)