The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.
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 chromosme 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.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics*; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009765:Obesity / Q000235:genetics*; D014178:Translocation, Genetic