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

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

Research output: Contribution to journalArticle

136 Citations (Scopus)

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
StatePublished - 1987

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Angelman Syndrome
Prader-Willi Syndrome
Ataxia
Laughter
Hypertelorism
Chromosomes, Human, Pair 15
Muscle Hypotonia
Appetite
Intellectual Disability
Foot
Seizures
Hand
Obesity
History

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

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.

Is Angelman syndrome an alternative result of del(15)(q11q13)? / Magenis, R. E.; Brown, M. G.; Lacy, D. A.; Budden, S.; Lafranchi, Stephen.

In: American Journal of Medical Genetics, Vol. 28, No. 4, 1987, p. 829-838.

Research output: Contribution to journalArticle

Magenis, RE, Brown, MG, Lacy, DA, Budden, S & Lafranchi, S 1987, 'Is Angelman syndrome an alternative result of del(15)(q11q13)?', American Journal of Medical Genetics, vol. 28, no. 4, pp. 829-838.
Magenis RE, Brown MG, Lacy DA, Budden S, Lafranchi S. Is Angelman syndrome an alternative result of del(15)(q11q13)? American Journal of Medical Genetics. 1987;28(4):829-838.
Magenis, R. E. ; Brown, M. G. ; Lacy, D. A. ; Budden, S. ; Lafranchi, Stephen. / Is Angelman syndrome an alternative result of del(15)(q11q13)?. In: American Journal of Medical Genetics. 1987 ; Vol. 28, No. 4. pp. 829-838.
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