Abstract
We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10 individuals with pathogenic copy number variants (CNVs) on the short arm of chromosome 8 (8p), representing approximately 1% of the patients analyzed. Two patients with 8p terminal deletion associated with interstitial inverted duplication (inv dup del(8p)) had different mechanisms leading to the formation of a dicentric intermediate during meiosis. Three probands carried an identical ∼5.0 Mb interstitial duplication of chromosome 8p23.1. Four possible hotspots within 8p were observed at nucleotide coordinates of ∼10.45, 24.32–24.82, 32.19–32.77, and 38.94–39.72 Mb involving the formation of recurrent genomic rearrangements. Other CNVs with deletion- or duplication-specific start or stop coordinates on the 8p provide useful information for exploring the basic mechanisms of complex structural rearrangements in the human genome.
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We thank Dr Holly H Ardinger for the critical review and comments on the article.
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Yu, S., Fiedler, S., Stegner, A. et al. Genomic profile of copy number variants on the short arm of human chromosome 8. Eur J Hum Genet 18, 1114–1120 (2010). https://doi.org/10.1038/ejhg.2010.66
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DOI: https://doi.org/10.1038/ejhg.2010.66
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