ArticleJournal of medical genetics2004
Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.
Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Clinical Features of Aberrations Chromosome 22q: A Pilot Study.Global medical genetics · 2022Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.American journal of medical genetics. Part A · 2018Article
- DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.Human genome variation · 2015Article
- Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.Current allergy and asthma reports · 2013Review
- Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.Clinical immunology (Orlando, Fla.) · 2013Article
- Practical guidelines for managing patients with 22q11.2 deletion syndrome.The Journal of pediatrics · 2011Article
- A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.BMC medical genetics · 2009Review
- Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA.Molecular cytogenetics · 2009Article
- Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.Cytogenetic and genome research · 2009Article
- Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.Developmental disabilities research reviews · 2008Review
- Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.BMC medical genetics · 2007Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAnalyses of the replication timing at 22q11.2 were prompted by our finding of a statistically significant bias in the origin of the regions flanking the deletion site in patients with 22q11.2 deletions, the proximal region being in the majority of cases of grandmaternal origin. We hypothesised that asynchronous replication may be involved in the formation of the 22q11.2 deletion, the most frequently occurring interstitial deletion in humans, by favouring the mispairing of low-copy repeats.
methodsReplication timing during S phase at 22q11.2 was investigated by fluorescent in situ hybridisation on interphase nuclei. We report on the detection of non-random asynchronous replication at the human chromosome region 22q11.2, an autosomal locus believed not to contain imprinted genes.
resultsAsynchronous replication at 22q11.2 was observed without exception in all 20 tested individuals; these comprised individuals with structurally normal chromosomes 22 (10 cases), individuals with translocations involving the locus 22q11.2 (eight cases), and patients with a 22q11.2 deletion (two cases). The non-random nature of the asynchronous replication was observed in all individuals for whom the chromosomes 22 were distinguishable. The earlier replicating allele was found to be of paternal origin in all cases where the parental origin of the translocation or deletion was known.
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