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Case Reports
. 1984 Oct;26(4):379-82.
doi: 10.1111/j.1399-0004.1984.tb01075.x.

Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion

H F de France, F A Beemer, P F Ippel
Case Reports

Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion

H F de France et al. Clin Genet. 1984 Oct.

Abstract

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.

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