Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion.
We describe a six-year-old boy with the typical features of Prader-Willi syndrome. Cytogenetic investigation revealed a chromosome aberration that has not been described yet, i.e. a duplication in the proximal half of 15q. Based upon banding-pattern the exact nature of the duplicated part could not be delineated. Both parents had a normal karyotype. Various hypotheses concerning the relationship between Prader-Willi syndrome and various chromosome 15 abnormalities are discussed.
D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D011218:Prader-Willi Syndrome / Q000235:genetics*