Clinical, Molecular, and Cytogenetic Survey of Potential Prader-Willi Syndrome Patients
Part of the
NATO ASI Series
book series (volume 61)
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.
KeywordsSpinal Muscular Atrophy Interstitial Deletion Entire Chromosome Uniparental Disomy Paternal Inheritance
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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© Springer-Verlag Berlin Heidelberg 1992