Prader-Willi syndrome associated with inversion of chromosome 15 |
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Authors: | Elizabeth J. T. Winsor J. Philip Welch |
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Affiliation: | Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada |
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Abstract: | A boy with Prader-Willi syndrome was found to have an inversion of chromosome 15,[46, XY, inv(15)(p13q13)]. His unaffected father has an apparently identical inversion of chromosome 15 but in addition has a number 14 chromosome with double satellites. This report supports previous indications of a relationship between a "position effect" and the etiology of Prader-Willi syndrome. However, a more complicated explanation is required in view of the cytogenetic findings in the proband's father. |
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Keywords: | Chromosome 15 chromosome position effect double satellites chromosome 14 inversion 15 Prader-Willi syndrome |
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