ArticleEuropean journal of human genetics : EJHG2010
Genomic profile of copy number variants on the short arm of human chromosome 8.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Segmentally duplicated regulatory elements undergo human-specific rewiring.bioRxiv : the preprint server for biology · 2025Article
- Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome.Orphanet journal of rare diseases · 2025Article
- Characterization of speech and language phenotype in the 8p23.1 syndrome.European child & adolescent psychiatry · 2024Article
- An asymptomatic male individual carrying a 5.72 MbExperimental and therapeutic medicine · 2024Article
- Characterization of Expression-Based Gene Clusters Gives Insights into Variation in Patient Response to Cancer Therapies.Cancer informatics · 2024Article
- Fusion Cell Markers in Circulating Tumor Cells from Patients with High-Grade Ovarian Serous Carcinoma.International journal of molecular sciences · 2022Article
- Mechanisms of structural chromosomal rearrangement formation.Molecular cytogenetics · 2022Review
- 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Genes · 2021Article
- Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.BMC medical genomics · 2021Article
- Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.Clinical case reports · 2021Article
- The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.Human genetics · 2020Article
- 8p 11 Microduplication Is Associated with Neonatal Stridor.Molecular syndromology · 2019Article
- Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.Molecular medicine reports · 2017Article
- Identification of candidate genes for congenital heart defects on proximal chromosome 8p.Scientific reports · 2016Article
- Assessment of megabase-scale somatic copy number variation using single-cell sequencing.Genome research · 2016Article
- Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits.Journal of pediatric genetics · 2015Article
- A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.PloS one · 2013Article
- FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.Neurogenetics · 2011Article
- Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.Behavior genetics · 2011Article
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4 authors.
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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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