Abstract
Two first cousins, one with Prader-Willi Syndrome (PWS) and one with Angelman Syndrome (AS), were both found to have familial translocation 6;15. Cytogenetic and molecular analysis indicate that the child with PWS also has a paternal deletion at the Prader-Willi chromosome region, while the child with AS appears to have paternal disomy for this region. The chromosomal translocation involving 15 may have predisposed to the deletion and disomy.
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© 1992 Springer-Verlag Berlin Heidelberg
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Smeets, D.F.C.M. et al. (1992). Prader-Willi Syndrome and Angelman Syndrome in Two Female Cousins as a Result of a Familial Translocation. 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_10
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DOI: https://doi.org/10.1007/978-3-642-84283-2_10
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