Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish. |
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| Authors: | J J Engelen W J Loots J C Albrechts C T Schrander-Stumpel R Dirckx H J Smeets A J Hamers J P Geraedts |
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| Affiliation: | Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands. |
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| Abstract: | We report on a patient presenting with mental retardation and obesity and a proximal duplication of chromosome 15. The patient shared some clinical signs with Prader-Willi syndrome. With a region-specific paint, generated by microdissection, a duplication in region 15q11.2-q13 was shown to be present. Subsequently, FISH with probes localized to chromosome region 15q11.2-q12 and microsatellite analysis was used to characterize this chromosome aberration further and an insertion duplication within the region frequently deleted in Prader-Willi and Angelman syndrome was demonstrated. |
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