Abstract
The association of an interstitial deletion of chromosome 15q11–13 with the Prader-Willi Syndrome (PWS) has been known since 1981 (Ledbetter et al, 1981 and 1982). However, about 37% of patients are cytogenetically normal (Ledbetter et al, 1987). The discovery of maternal heterodisomy for 15q11–13 in two patients with PWS (Nicholls et al, 1989) raised the question of whether such a phenomenon could explain many or even all non-deletion patients. To answer such a question requires a very good clinical diagnosis and reliable molecular data, and was the major impetus for the work presented here.
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References
Ledbetter DH, Greenberg F, Holm VA, Cassidy SB (1987) Conference report: Second annual Prader-Willi Syndrome scientific conference. Am J Med Genet 28: 779–790
Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ (1982) Chromosome 15 abnormalities and the Prader-Willi Syndrome: A follow-up report of 40 cases. Am J Hum Genet 34: 278–285
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan SB, Crawford JD (1981) Deletions of chromosome 15 as a cause of the Prader-Willi Syndrome. N Engl J Med 304: 325–329
Nicholls RD, Knoll JHM, Butler MG, Karam S, LaLande M (1989) Genetic imprinting suggested by maternal heterodisomy in non- deletion Prader-Willi Syndrome. Nature 342: 281–285
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© 1992 Springer-Verlag Berlin Heidelberg
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Robinson, W.P. et al. (1992). Clinical, Molecular, and Cytogenetic Survey of Potential Prader-Willi Syndrome Patients. In: Cassidy, S.B. (eds) Prader-Willi Syndrome. NATO ASI Series, vol 61. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-84283-2_7
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DOI: https://doi.org/10.1007/978-3-642-84283-2_7
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-84285-6
Online ISBN: 978-3-642-84283-2
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