Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements.

@article{South2010LargeCC,
  title={Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements.},
  author={Sarah T. South and Lyndsey S Rector and Emily Aston and Leslie Rowe and Samuel P Yang},
  journal={The Journal of molecular diagnostics : JMD},
  year={2010},
  volume={12 5},
  pages={725-9}
}
When a chromosome abnormality is identified in a child with a developmental delay and/or multiple congenital anomalies and the chromosome rearrangement appears balanced, follow-up studies often examine both parents for this rearrangement. If either clinically unaffected parent has a chromosome abnormality with a banding pattern identical to the affected… CONTINUE READING