Abstract
Genetic analysis of patients with Prader-Willi Syndrome (PWS) began with karyotyping of patients and their parents in the 1970 s and continued and expanded in the 1980’s with high resolution chromosome banding in an attempt to resolve the type of chromosome rearrangement. The results of high resolution banding in 280 patients with PWS has been summarized (Butler, 1990), and is a deletion of 15qll.2, q11-12, or q11–13 in 56%, a Robertsonian translocation in 0.7%, a reciprocal translocation in 0.7%, an extra isodicentric chromosome 15pter-qll in 1.4%, other chromosome abnormalities in 0.7%, and a normal karyotype in 41%. Furthermore, the aberrant chromosome 15 was found to be paternal in origin (Butler, 1990). These cytogenetic findings together with phenotype correlation studies showing no phenotypic differences between those PWS patients with or without a cytogenetic deletion, with the exception of hypopigmentation (Butler, 1989), led to the hypothesis that the patients without cytogenetically visible abnormalities may present as PWS as the result of a submicroscopic rearrangement within the region of 15q11–13.
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References
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© 1992 Springer-Verlag Berlin Heidelberg
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Gregory, C.A., Kirkilionis, A.J., Hamerton, J.L. (1992). Characterization of cDNA Clones Corresponding to Genomic Loci Rearranged in Patients with 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_4
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DOI: https://doi.org/10.1007/978-3-642-84283-2_4
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