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Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
Abstract
Many Prader‐Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13‐ specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).
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Citations
Cited by
Prader-Willi Syndrome: Consensus Diagnostic Criteria
Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F. (1993) · Pediatrics · doi:10.1542/peds.91.2.398 · Cited by 1,278
Angelman syndrome: a review of the clinical and genetic aspects
Clayton-Smith, J., & Laan, L. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.2.87 · Cited by 687
Bartolomei, M. S., & Ferguson-Smith, A. C. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a002592 · Cited by 518
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Hogart, A., Wu, D., LaSalle, J. M., & Schanen, N. C. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.08.011 · Cited by 351
Prader–Willi syndrome and Angelman syndrome
Buiting, K. (2010) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30273 · Cited by 336
Metadata
- Authors
- Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Graham, J. M., Lalande, M., Latt, S. A., Opitz, J. M., & Reynolds, J. F.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1989-02
- Volume
- 32
- Issue
- 2
- Pages
- 285-290
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2043882061
- Cited by
- 576
- References
- 0
- FWCI
- 21.57
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. https://app.cochat.ai/papers/10.1002/ajmg.1320320235
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- Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Graham, J. M., Lalande, M., Latt, S. A., Opitz, J. M., & Reynolds, J. F. (1989). Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320320235
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