Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

@article{Koolen2008IdentificationON,
  title={Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches},
  author={David A. Koolen and Erik A Sistermans and Willy Nilessen and Samantha J L Knight and Regina Regan and Yan Tat Liu and R. Frank Kooy and Liesbeth Rooms and Corrado Romano and Marco Fichera and Albert A G L Schinzel and Alessandra Baumer and B M Anderlid and Jacqueline Schoumans and A. Geurts van Kessel and Magnus Nordenskjold and Bert B. A. de Vries},
  journal={European Journal of Human Genetics},
  year={2008},
  volume={16},
  pages={395-400}
}
Genome-wide analysis of DNA copy-number changes using microarray-based technologies has enabled the detection of de novo cryptic chromosome imbalances in approximately 10% of individuals with mental retardation. So far, the majority of these submicroscopic microdeletions/duplications appear to be unique, hampering clinical interpretation and genetic counselling. We hypothesised that the genomic regions involved in these de novo submicroscopic aberrations would be candidates for recurrent copy… CONTINUE READING