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Clin Genet. 1984 Jul;26(1):65-8.

Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader-Willi syndrome.

Abstract

The present report concerns a mentally retarded 14-year-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 our patient. The abnormal chromosome appeared to have a duplication for the bands q14 and q15.

PMID:
6467659
[Indexed for MEDLINE]
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