Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader‐Willi syndrome
- 1 July 1984
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 26 (1), 65-68
- https://doi.org/10.1111/j.1399-0004.1984.tb00791.x
Abstract
The present report concerns a mentally retarded 14-yr-old girl with epilepsy. Her karyotype showed a duplication in the proximal portion of the long arm of chromosome 15. Deficiency as well as excess of chromosome 15 material is sometimes associated with Prader-Willi Syndrome. On clinical investigation no symptoms of this syndrome were found in this patient. The abnormal chromosome appeared to have a duplication for the bands q14 and q15.Keywords
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