The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

@article{Gribble2005TheCN,
  title={The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.},
  author={Susan M. Gribble and Elena Prigmore and Deborah C. Burford and Keith M. Porter and Bee Ling Ng and Eleanor J Douglas and Heike Fiegler and Phillipa Carr and Dimitrios Kalaitzopoulos and Steven Clegg and Richard S. Sandstrom and Isabel Karen Temple and Sheila A Youings and Nick S. T. Thomas and Nicholas Robert Dennis and Patricia A. Jacobs and John Anthony Crolla and Nigel P. Carter},
  journal={Journal of medical genetics},
  year={2005},
  volume={42 1},
  pages={8-16}
}
OBJECTIVE To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome rearrangements, map the translocation breakpoints, and report detectable genomic imbalances. METHODS DNA microarrays were used with a resolution of 1 Mb for the detailed genome-wide analysis of the patients. Array CGH was used to screen for genomic imbalance and array painting to map chromosome… CONTINUE READING

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