Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay.

@article{Boehm2007GrossGR,
  title={Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay.},
  author={Detlef Boehm and Janina Bacher and Hartmut P. H. Neumann},
  journal={American journal of kidney diseases : the official journal of the National Kidney Foundation},
  year={2007},
  volume={49 1},
  pages={e11-21}
}
Tuberous sclerosis complex (TSC) was instrumented for identification of the gene causing autosomal dominant polycystic kidney disease type 1 (PKD1) because a patient showing both diseases gave rise to the suggestion that the TSC2 gene is located in close vicinity on chromosome 16p13. However, distinct molecular genetic characterization of such patients is sparse in the literature. A 41-year-old woman was admitted because of chylous ascites and pleural effusions. She was on hemodialysis therapy… CONTINUE READING