Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

@inproceedings{Wang2016EnrichmentOS,
  title={Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis},
  author={Jia-Chi Wang and Loretta W Mahon and Leslie P Ross and Arturo L Anguiano and Renius X Owen and Fatih Z Boyar},
  booktitle={Molecular Cytogenetics},
  year={2016}
}
BackgroundHigh-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions.ResultsA review of 531 cases with reportable copy number changes on chromosome 9 revealed142 pathogenic copy number variants (CNVs): 104 losses, 31 gains, 7 complex chromosomal rearrangements. Of 104 pathogenic… CONTINUE READING

References

Publications referenced by this paper.
SHOWING 1-10 OF 12 REFERENCES

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

  • American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2013
VIEW 1 EXCERPT