Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion |
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Authors: | H. F. de France F. A. Beemer P. F. Ippel |
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Affiliation: | Clinical Genetics Center, State University of Utrecht, Utrecht;University Children's Hospital, "Het Wilhelmina Kinderziekenhuis", Utrecht, The Netherlands |
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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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Keywords: | Chromosome 15 aberration partial duplication 15q Prader-Willi syndrome tandem duplication 15 |
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