Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.

  title={Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.},
  author={Orit Reish and Israela Lerer and Aliza Amiel and Eli Heyman and A. Herman and Tzipora Dolfin and Dvorah Abeliovich},
  journal={American journal of medical genetics},
  volume={107 3},
We describe three unrelated cases of Wiedemann-Beckwith syndrome (WBS). Two of them were diagnosed postnatally while the third was detected during pregnancy that resulted in elective termination. Amniotic karyotypes were normal in all. PCR amplification of polymorphic loci mapping to 11p15.5 region documented partial trisomy of 11p15.5 due to paternal translocation in one, and segmental and mosaic segmental unipaternal disomy (UPD) in the second and third cases, respectively. Based on findings… CONTINUE READING


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