Is Angelman syndrome an alternate result of del(15)(q11q13)?

Am J Med Genet. 1987 Dec;28(4):829-38. doi: 10.1002/ajmg.1320280407.


Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism. The similarity of these girls and dissimilarity to Prader-Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic-like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Ataxia / genetics*
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 15*
  • Diagnosis, Differential
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Language Development Disorders / genetics*
  • Laughter
  • Prader-Willi Syndrome / genetics*
  • Syndrome