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Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome
Abstract
THE Prader–Willi syndrome consists of muscular hypotonia, obesity, short stature, small hands and feet, hypogonadism, and mental retardation. Although an autosomal-recessive mode of inheritance has been suggested, the origin of the disease has been problematic. In 1976 Hawkey and Smithies described a patient with the syndrome and an abnormal karyotype showing a 15; 15 Robertsonian translocation.1 Noting similar translocations involving at least one D-group chromosome (numbers 13–15) in earlier reports on the syndrome, they suggested that loss of the short arm of chromosome 15 because of unbalanced translocation might be a specific cause of this syndrome. Since their report, seven . . .
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Citations
Cited by
Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e31822bead0 · Cited by 1,452
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.016 · Cited by 1,430
Self-citationPrader-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
Structural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201
Diagnostic genome profiling in mental retardation
de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605
Metadata
- Authors
- Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1981-02-05
- Volume
- 304
- Issue
- 6
- Pages
- 325-329
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2003297134
- Cited by
- 624
- References
- 0
- FWCI
- 16.16
- Type
- journal article
- Language
- en
- Open access
- closed
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- Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D. (1981). Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome. New England Journal of Medicine. https://doi.org/10.1056/nejm198102053040604
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