Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader-Willi syndrome.
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.
D000293:Adolescent; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype; D011218:Prader-Willi Syndrome