ArticleAmerican journal of human genetics1996
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 126 citations in OpenAlex.
- Determinants of dicentric chromosome breakage inbioRxiv : the preprint server for biology · 2026Article
- Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome.Orphanet journal of rare diseases · 2025Article
- Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.International journal of molecular sciences · 2022Article
- Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.Frontiers in genetics · 2022Article
- Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.Brain sciences · 2020Article
- Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.International journal of molecular sciences · 2020Article
- Large inverted duplications in the human genome form via a fold-back mechanism.PLoS genetics · 2014Article
- A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.PloS one · 2013Article
- Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH.The application of clinical genetics · 2012Article
- Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.Behavior genetics · 2011Article
- Genomic profile of copy number variants on the short arm of human chromosome 8.European journal of human genetics : EJHG · 2010Article
- Inversion variants in the human genome: role in disease and genome architecture.Genome medicine · 2010Article
- Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.Molecular cytogenetics · 2009Article
- Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.Molecular cytogenetics · 2009Article
- A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.European journal of human genetics : EJHG · 2009Article
- Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report.Molecular cytogenetics · 2008Article
- From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Nature reviews. Genetics · 2007Review
- Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.Journal of medical genetics · 2007Article
- Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.Journal of medical genetics · 2006Article
- Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.American journal of human genetics · 2002Article
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We studied 16 cases of 8p duplications, with a karyotype 46,XX or XY,dup(8p), associated with mental retardation, facial dysmorphisms, and brain defects. We demonstrate that these 8p rearrangements can be either dicentric (6 cases) with the second centromere at the tip of the short arm or monocentric (10 cases). The distal 8p23 region, from D8S349 to the telomere, including the defensin 1 locus, is deleted in all the cases. The region spanning from D8S252 to D8S265, at the proximal 8p23 region, is present in single copy, and the remaining part of the abnormal 8 short arm is duplicated in the dicentric cases and partially duplicated in the monocentric ones. The distal edge of the duplication always spans up to D8S552 (8p23.1), while its proximal edge includes the centromere in the dicentric cases and varies from case to case in the monocentric ones. The analysis of DNA polymorphisms indicates that the rearrangement is consistently of maternal origin. In the deleted region, only paternal alleles were present in the patient. In the duplicated region, besides one paternal allele, some loci showed two different maternal alleles, while others, which were duplicated by FISH analysis, showed only one maternal allele. We hypothesize that, at maternal meiosis I, there was abnormal pairing of chromosomes 8 followed by anomalous crossover at the regions delimited by D8S552 and D8S35 and by D8S252 and D8S349, which presumably contain inverted repeated sequences. The resulting dicentric chromosome, 8qter-8p23.1(D8S552)::8p23.1-(D8S35)-8q ter, due to the presence of two centromeres, breaks at anaphase I, generating an inverted duplicated 8p, dicentric if the breakage occurs at the centromere or monocentric if it occurs between centromeres.
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8644743PMC1914661W1570715867What OpenQuestion holds
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