Abstract
Most experienced clinicians agree that the diagnosis of Prader-Willi Syndrome (PWS) remains a clinical one. The 15q deletion has been considered confirmatory when present. However, several studies have established that only 50–70% of the patients with the Syndrome show this finding, always in the paternally derived chromosome 15. Some patients with the PWS have shown other abnormalities of chromosome 15 (Cassidy and Ledbetter, 1989). In addition, it is now well established that Angelman Syndrome is also associated with the sarae deletion of a chromosome 15 inherited from the mother rather than the father (Magenis et al, 1990). Finally, patients with other conditions, e.g., Williams Syndrome, and hypotonia of unknown etiology have also been reported to demonstrate the 15q deletion on cytogenetic studies (Kaplan et al, 1987; Holm, 1991).
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© 1992 Springer-Verlag Berlin Heidelberg
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Holm, V.A. et al. (1992). Diagnostic Criteria for Prader-Willi Syndrome. 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_12
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DOI: https://doi.org/10.1007/978-3-642-84283-2_12
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