In our laboratory, we have used HR-CGH as a screening method for cryptic chromosomal imbalances for several years. In an initial study, we found a cryptic chromosomal imbalance in 5 out of 50 patients ...

The frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies.

In addition to the surprising revelation that our chromosomes harbor fewer genes than originally predicted, the Human Genome Project also unveiled that all individuals share approximately 99.9% of ...