Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

@article{Zhang2008DetectionOS,
  title={Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms},
  author={Zhong-Fa Zhang and Claudia A. L. Ruivenkamp and Johan Staaf and Hongbo Zhu and Michela Barbaro and David Petillo and Sok Kean Khoo and {\AA}ke Borg and Y. S. Fan and Jacqueline Schoumans},
  journal={European Journal of Human Genetics},
  year={2008},
  volume={16},
  pages={786-792}
}
For several decades etiological diagnosis of patients with idiopathic mental retardation (MR) and multiple congenital anomalies (MCA) has relied on chromosome analysis by karyotyping. Conventional karyotyping allows a genome-wide detection of chromosomal abnormalities but has a limited resolution. Recently, array-based comparative genomic hybridization (array CGH) technologies have been developed to evaluate DNA copy-number alterations across the whole-genome at a much higher resolution. It has… CONTINUE READING
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