Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

@article{Koolen2005MolecularCO,
  title={Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation},
  author={David A. Koolen and William Reardon and Elisabeth M Rosser and Didier Lacombe and Jane A. Hurst and Caroline J Law and Ernie M. H. F. Bongers and Conny M. A. van Ravenswaaij-Arts and Martijn A. R. Leisink and A. Geurts van Kessel and Joris A. Veltman and Bert B. A. de Vries},
  journal={European Journal of Human Genetics},
  year={2005},
  volume={13},
  pages={1019-1024}
}
The 22q13 deletion syndrome is associated with global developmental delay, absent or delayed speech, and generalised hypotonia. In this study, the size and nature of 22q13 deletions (n=9) were studied in detail by high-resolution chromosome specific array-based comparative genomic hybridisation (array CGH). The deletion sizes varied considerably between the different patients, that is, the largest deletion spanning 8.4 Mb with the breakpoint mapping to 22q13.2 and the smallest deletion spanning… CONTINUE READING

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