Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.

@article{Freeman1993PaternalUD,
  title={Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.},
  author={Sallie B. Freeman and Kristin M May and Dorothy Pettay and Paul M. Fernhoff and Terry J. Hassold},
  journal={American journal of medical genetics},
  year={1993},
  volume={45 5},
  pages={625-30}
}
Chromosome 15 (15q11-q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). We present the first case of a child with a balanced 15;15 translocation and AS in whom molecular studies were crucial in confirming a diagnosis. DNA polymorphisms demonstrated paternal uniparental disomy for chromosome 15, consistent with the diagnosis of AS. The molecular studies also showed the patient to be homozygous at all loci for which the father was… CONTINUE READING