Unbalanced translocation (15;17)(q13;p13.3) with apparent Prader‐Willi syndrome but without Miller‐Dieker syndrome

Abstract

We studied after death a 3‐month‐old girl whose karyotype was 45,XX, − 15, − 17, + der(17),t(15;17)(q13;p13.3) and thus combines abnormalities of chromosome 15 associated with the Prader‐Willi syndrome and of chromosome 17 associated with the Miller‐Dieker syndrome. This infant had several manifestations of the Prader‐Willi syndrome in infancy but none of the Miller‐Dieker syndrome. We propose that essentially no loss of 17p material has occurred and confirm previous reports that the critical region for the production of the Miller‐Dieker phenotype is located subterminally in the 17p13.3 region.