The Prader Willi syndrome with a 15/15 translocation. Case report and review of the literature

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Abstract

A case, diagnosed clinically as the Prader Willi syndrome, was shown by Giemsa banding, to have a 15/15 chromosome translocation. A review of the literature indicates that such a translocation has only been described once before, in a normal woman, but that chromosome abnormalities in the Prader Willi syndrome most commonly involve the D group. The significance of this would be clarified by specific chromosome identification in these patients.

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Hawkey, C. J., & Smithies, A. (1976). The Prader Willi syndrome with a 15/15 translocation. Case report and review of the literature. Journal of Medical Genetics, 13(2), 152–157. https://doi.org/10.1136/jmg.13.2.152

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