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- Title
Genomic profile of copy number variants on the short arm of human chromosome 8.
- Authors
Shihui Yu; Fiedler, Stephanie; Stegner, Andrew; Graf, William D.
- 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.
- Subjects
HUMAN genetics; JUVENILE diseases; HUMAN gene mapping; HUMAN genome; CELL division
- Publication
European Journal of Human Genetics, 2010, Vol 18, Issue 10, p1114
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2010.66