ArticleJournal of medical genetics2000
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlation.Journal of pediatric genetics · 2020Article
- Common fragile sites: protection and repair.Cell & bioscience · 2020Review
- BLM prevents instability of structure-forming DNA sequences at common fragile sites.PLoS genetics · 2018Article
- The "enemies within": regions of the genome that are inherently difficult to replicate.F1000Research · 2017Review
- High chromosomal instability in workers occupationally exposed to solvents and paint removers.Molecular cytogenetics · 2016Article
- Pure interstitial dup(6)(q22.31q22.31) - a case report.Italian journal of pediatrics · 2015Article
- Interplay between genetic and epigenetic factors governs common fragile site instability in cancer.Cellular and molecular life sciences : CMLS · 2014Review
- A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.Scientific reports · 2014Article
- Large inverted duplications in the human genome form via a fold-back mechanism.PLoS genetics · 2014Article
- Infection with retroviral vectors leads to perturbed DNA replication increasing vector integrations into fragile sites.Scientific reports · 2013Article
- Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.Molecular cytogenetics · 2012Article
- 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
- Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.Cell & chromosome · 2008Article
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Authors and funding
19 authors.
Funding
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Abstract
Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 different autosomal chromosome segments are reported. There were 12 cases with direct duplications, three cases with inverted duplications, and five in whom determination of direction was not possible. In seven cases a rearrangement between non-sister chromatids (N-SCR) was found, whereas in the remaining 13 cases sister chromatids (SCR) were involved. Paternal and maternal origin (7:7) was found almost equally in cases with SCR (3:4) and N-SCR (4:3). In the cases with proven inversion, there was maternal and paternal origin in one case each. Twenty three out of 43 cytogenetically determined breakpoints correlated with common or rare fragile sites. In five cases, including all those with proven inverse orientation, all breakpoints corresponded to common or rare fragile sites. In at least two cases, one with an interstitial duplication (dup(19)(q11q13)) and one with a terminal duplication (dup(8) (p10p23)), concomitant deletions (del(8) (p23p23.3) and del(19)(q13q13)) were found.
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