Abstract
The Identification of the genetic defect in Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) requires the isolation of molecular probes for the critical region (15q11.2–13). In 1986, Donion et al. constructed a DNA library from a flow sorted inv dup(15)(pter-q13:q13-pter). Clones from this library were instrumental in defining the shortest region of overlap in PWS and AS (Knoll et al, 1990) and in identifying uniparental disomy in non-deletion PWS (Nicholls et al, 1989) and AS (Malcolm et al, 1991).
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© 1992 Springer-Verlag Berlin Heidelberg
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Buiting, K. et al. (1992). Microdissection and Molecular Analysis of Proximal 15q. 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_2
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DOI: https://doi.org/10.1007/978-3-642-84283-2_2
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