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

R. E. Magenis, M. G. Brown, D. A. Lacy, S. Budden, S. LaFranchi

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141 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)829-838
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume28
Issue number4
DOIs
StatePublished - Jan 1 1987

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Magenis, R. E., Brown, M. G., Lacy, D. A., Budden, S., & LaFranchi, S. (1987). Is Angelman syndrome an alternative result of del(15)(q11q13)? American Journal of Medical Genetics, 28(4), 829-838. https://doi.org/10.1002/ajmg.1320280407