title: Genomic profile of copy number variants on the short arm of human chromosome 8.
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.
authors.affiliation: Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA. syu1@cmh.edu
authors.forename: Shihui
authors.initials: S
authors.lastname: Yu
authors.forename: Stephanie
authors.initials: S
authors.lastname: Fiedler
authors.forename: Andrew
authors.initials: A
authors.lastname: Stegner
authors.forename: William D
authors.initials: WD
authors.lastname: Graf
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D058674:Chromosome Duplication; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant
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