Duplication in chromosome 15q in a boy with the Prader‐Willi syndrome; further cytogenetic confusion
- 1 October 1984
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 26 (4), 379-382
- https://doi.org/10.1111/j.1399-0004.1984.tb01075.x
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.Keywords
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