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Angelman syndrome: are the estimates too low?

Publication ,  Journal Article
Buckley, RH; Dinno, N; Weber, P
Published in: Am J Med Genet
December 4, 1998

More than 300 cases of Angelman Syndrome (AS) have been reported. AS is still considered a clinical diagnosis because only approximately 80% of those individuals who meet the clinical criteria will have a maternal deletion of chromosome 15q11-13. Of the reported cases of AS, very few are of adults with AS. We present our findings on 11 adults with AS identified in a long-term residential care facility for persons with severe developmental disabilities. The diagnosis of AS was not recognized at the time of their admission but was established as part of our evaluation. Thus, there may be an underestimate of the true incidence of AS especially in adults with severe developmental disabilities.

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Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

December 4, 1998

Volume

80

Issue

4

Start / End Page

385 / 390

Location

United States

Related Subject Headings

  • Washington
  • Seizures
  • Residential Facilities
  • Middle Aged
  • Male
  • Intellectual Disability
  • Incidence
  • Humans
  • Heart Diseases
  • Gastrointestinal Diseases
 

Citation

APA
Chicago
ICMJE
MLA
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Buckley, R. H., Dinno, N., & Weber, P. (1998). Angelman syndrome: are the estimates too low? Am J Med Genet, 80(4), 385–390. https://doi.org/10.1002/(sici)1096-8628(19981204)80:4<385::aid-ajmg15>3.0.co;2-9
Buckley, R. H., N. Dinno, and P. Weber. “Angelman syndrome: are the estimates too low?Am J Med Genet 80, no. 4 (December 4, 1998): 385–90. https://doi.org/10.1002/(sici)1096-8628(19981204)80:4<385::aid-ajmg15>3.0.co;2-9.
Buckley RH, Dinno N, Weber P. Angelman syndrome: are the estimates too low? Am J Med Genet. 1998 Dec 4;80(4):385–90.
Buckley, R. H., et al. “Angelman syndrome: are the estimates too low?Am J Med Genet, vol. 80, no. 4, Dec. 1998, pp. 385–90. Pubmed, doi:10.1002/(sici)1096-8628(19981204)80:4<385::aid-ajmg15>3.0.co;2-9.
Buckley RH, Dinno N, Weber P. Angelman syndrome: are the estimates too low? Am J Med Genet. 1998 Dec 4;80(4):385–390.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

December 4, 1998

Volume

80

Issue

4

Start / End Page

385 / 390

Location

United States

Related Subject Headings

  • Washington
  • Seizures
  • Residential Facilities
  • Middle Aged
  • Male
  • Intellectual Disability
  • Incidence
  • Humans
  • Heart Diseases
  • Gastrointestinal Diseases