A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.

Abstract

We report on a Prader-Willi patient with a de novo supernumerary marker chromosome (SMC) in 16% of the cells. The SMC was a ring chromosome and it included the PWS/AS critical region as was demonstrated by FISH. Segregation analysis indicated that the SMC originated from a paternal chromosome 15 and the two normal chromosomes 15 of the patients were of the… (More)

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@article{Werner2004APW, title={A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.}, author={Marion Werner and Ziva Ben-Neriah and Shira Silverstein and Israela Lerer and Yudith Dagan and Dvorah Abeliovich}, journal={American journal of medical genetics. Part A}, year={2004}, volume={129A 2}, pages={176-9} }