Prader-Willi syndrome and Robertsonian translocations involving chromosome 15 |
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Authors: | Anthony C Casamassima Lawrence R Shapiro Patrick L Wilmot Karen Berk Smith |
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Institution: | Department of Pediatrics, New York Medical College, Valhalla. |
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Abstract: | A case of Prader-Willi syndrome is presented in which high resolution chromosome analysis revealed not only a familial Robertsonian translocation t(13q15q)], but also a del(15) (q11.2q13) of the chromosome 15 not involved in the translocation. While there have been numerous reports of Robertsonian translocations involving chromosome 15 in patients with Prader-Willi syndrome, in this case, the Robertsonian translocation was shown to be unrelated to the clinical findings. |
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Keywords: | deletion of 15q Prader-Willi syndrome Robertsonian translocation |
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