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DescriptionPws.jpg
English: t(4;15) carrier, Prader-Willi syndrome phenotype, at 15 years of age . Note absence of typical PWS facial features and presence of mild truncal obesity.
Polski: 15-letni chłopiec z zespołem Pradera-Williego (translokacja t(4;15)) o słabo wyrażonym fenotypie (brak cech dysmorficznych twarzy), z otyłością typu centralnego, małymi dłońmi i stopami (odpowiednio 20 i 5 percentyl dla płci i wieku).
Date
12 January 2008 (upload date)
Source
Schüle B, Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome. BMC Medical Genetics. 6, 18. 2005. PMID 15877813. DOI:10.1186/1471-2350-6-18
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