ArticleEuropean journal of human genetics : EJHG2009
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed.
- De novo unbalanced translocations have a complex history/aetiology.Human genetics · 2018Trial
- High-Resolution Whole-Genome DNA Methylation Revealed Unique Signatures of Painful Diabetic Neuropathy.Diabetes · 2025Article
- Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.Journal of human genetics · 2023Article
- Article
- Homologous recombination suppresses transgenerational DNA end resection and chromosomal instability in fission yeast.Nucleic acids research · 2023Article
- Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, FluorescentBalkan journal of medical genetics : BJMG · 2020Article
- The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.Human genetics · 2020Article
- Mechanisms underlying genome instability mediated by formation of foldback inversions ineLife · 2020Article
- Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).Journal of medical genetics · 2018Article
- A newborn with ambiguous genitalia and a complex X;Y rearrangement.Iranian journal of reproductive medicine · 2014Article
- Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.Molecular cytogenetics · 2014Article
- A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.Molecular cytogenetics · 2014Article
- Large inverted duplications in the human genome form via a fold-back mechanism.PLoS genetics · 2014Article
- Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.Molecular syndromology · 2013Article
- Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism.Psychiatric genetics · 2012Article
- Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.PloS one · 2012Article
- Review
- A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.The Journal of clinical endocrinology and metabolism · 2011Article
- Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.European journal of human genetics : EJHG · 2010Article
- Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.American journal of human genetics · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
We studied a family in which the same 10 Mb inverted duplication of 2p25.3-p25.1 segregates in two children and their father, all showing a trisomy phenotype. As FISH analysis demonstrated that the duplication was inverted, we suspected that a contiguous terminal deletion was also present, according to the classical inv dup del type of rearrangements. Although FISH with 2p and 2q subtelomeric probes gave normal results, 100 kb resolution array-C/GH (aCGH) showed that, beside the duplication, a 273 kb deletion was also present. The presence of a single-copy region between the deleted and duplicated regions was further suspected through high-resolution aCGH analysis (approximately 20 kb), although only one informative spot having a normal log ratio was detected. The precise structure of the rearrangement was re-defined by real-time PCR and breakpoint cloning, demonstrating the presence of a 2680 bp single-copy sequence between deleted and duplicated regions and the involvement of a simple repeat with the potential for forming a non-B DNA structure. The rearrangement was not mediated by segmental duplications or short inverted repeats, and the double-strand break might have been repaired by non-homologous end joining or microhomology-mediated intrastrand repair. These data highlight the fact that concomitant deletions associated with inverted duplications are very likely to be more frequent than classical cytogenetic methods alone have been able to demonstrate. The phenotypic effects of the trisomy and of the terminal 2p deletion are discussed.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.