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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.
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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
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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.
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