Nonimmune fetal hydrops and placentomegaly: diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH

Abstract

We have studied a family in which four members of the same generation were affected with Wiedemann-Beckwith syndrome (WBS). Trisomy 11p15 was demonstrated using molecular probes in interphase nuclei of formalin-fixed paraffin-embedded placenta from a stillborn fetus and in peripheral blood lymphocytes from two liveborn female relatives. Clinical examination showed nonimmune hydrops and placentomegaly in two siblings and multiple phenotypic abnormalities consistent with WBS in the two other relatives. Paternal karyotype of the stillborn infants demonstrated a reciprocal translocation (46,XY,t(10;11) (q26;p15)) explaining the origin of the extra 11p15 material. This study illustrates the advantages of FISH for interphase analysis of chromosome aberrations otherwise not detected even by conventional cytogenetic analysis and documents that nonimmune hydrops associated with placentomegaly may be the presenting features in familial WBS.