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 language | English (US) |
|---|---|
| Pages (from-to) | 829-838 |
| Number of pages | 10 |
| Journal | American Journal of Medical Genetics |
| Volume | 28 |
| Issue number | 4 |
| State | Published - 1987 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Neuroscience(all)
- Neuropsychology and Physiological Psychology
Cite this
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 journal › Article
}
TY - JOUR
T1 - Is Angelman syndrome an alternative result of del(15)(q11q13)?
AU - Magenis, R. E.
AU - Brown, M. G.
AU - Lacy, D. A.
AU - Budden, S.
AU - Lafranchi, Stephen
PY - 1987
Y1 - 1987
N2 - 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.
AB - 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.
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M3 - Article
C2 - 3688021
AN - SCOPUS:0023522069
VL - 28
SP - 829
EP - 838
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -