Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

@article{ElHattab2010DeletionAD,
  title={Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants},
  author={Ayman W El-Hattab and Feng Zhang and Rolanda Maxim and Katherine M Christensen and Jewell C. Ward and Stacy J Hines-Dowell and Fernando Scaglia and James R Lupski and Sau W Cheung},
  journal={Genetics in Medicine},
  year={2010},
  volume={12},
  pages={573-586}
}
Purpose: To investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements.Methods: Oligonucleotide-based chromosomal microarray analyses were performed, and the results were subsequently confirmed by fluorescence in situ hybridization analyses. Long-range polymerase chain reaction amplification and DNA sequencing analysis were used for breakpoint junction sequencing.Results: We… CONTINUE READING

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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