Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

@article{Berend2002IdentificationOU,
  title={Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.},
  author={Sue Ann Berend and Bassem A. Bejjani and Christopher McCaskill and Lisa Gail Shaffer},
  journal={American journal of medical genetics},
  year={2002},
  volume={111 4},
  pages={362-5}
}
Carriers of either homologous or non-homologous acrocentric rearrangements are at an increased risk for aneuploidy, and, thus, for uniparental disomy (UPD). Abnormal phenotypes due to genomic imprinting are associated with UPD for the acrocentric chromosomes 14 and 15. The purpose of this study was to determine the prevalence of UPD in a population with acrocentric rearrangements (either an isochromosome or a Robertsonian translocation) and abnormal phenotypes. Fifty individuals were studied… CONTINUE READING