Molecular karyotyping: from microscope to SNP arrays.

@article{Gijsbers2011MolecularKF,
  title={Molecular karyotyping: from microscope to SNP arrays.},
  author={Antoinet C. J. Gijsbers and Claudia A. L. Ruivenkamp},
  journal={Hormone research in paediatrics},
  year={2011},
  volume={76 3},
  pages={208-13}
}
Chromosomal rearrangements are an important cause of distinctive and recognizable clinical phenotypes. For many years conventional karyotyping has been a successful tool to detect such chromosomal rearrangements. However, this technique has a limited resolution of 5-10 Mb. In the past decades, the development of new high-resolution techniques has led to the field of molecular cytogenetics. One of the most significant changes has been the use of molecular karyotyping by high-resolution whole… CONTINUE READING

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