Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

@article{Adams2009ImpactOG,
  title={Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH},
  author={Sara Anne Adams and Justine Coppinger and Sulagna C. Saitta and Tracy Stroud and Manikum Kandamurugu and Zheng Fan and Blake C. Ballif and Lisa G Shaffer and Bassem A. Bejjani},
  journal={Genetics in Medicine},
  year={2009},
  volume={11},
  pages={314-322}
}
Background: The use of microarray-based comparative genomic hybridization has allowed the genetic diagnosis of some conditions before their full clinical presentation. This “genotype-first” diagnosis has the most clinical implications for genomic alterations that confer an elevated risk of cancer. In these cases, diagnosis before the manifestation of the patient's full phenotype dramatically impacts genetic counseling, clinical management, and eventual prognosis and survivability.Methods: Using… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 20 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 19 REFERENCES

Monosomy 1p36 deletion syndrome.

  • American journal of medical genetics. Part C, Seminars in medical genetics
  • 2007

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A Koolen, Lisenka E L M Vissers, +17 authors Bert B A de Vries
  • Nature Genetics
  • 2006

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw-Smith, Alan M Pittman, +17 authors Nigel P Carter
  • Nature Genetics
  • 2006
VIEW 1 EXCERPT

Similar Papers

Loading similar papers…