ArticleEuropean journal of medical genetics
Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.
Article in European journal of medical genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Article
- The 22q11.2 Low Copy Repeats.Genes · 2022Review
- Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.Human molecular genetics · 2019Article
- In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?Journal of neurodevelopmental disorders · 2019Review
- A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.European journal of human genetics : EJHG · 2016Article
- Mechanisms underlying structural variant formation in genomic disorders.Nature reviews. Genetics · 2016Review
- 22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.Molecular syndromology · 2016Article
- Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.The Journal of molecular diagnostics : JMD · 2010Article
- A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.BMC medical genetics · 2009Review
- Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.Congenital heart diseaseArticle
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Deletions in region 22q11.2 usually occur between two low copy repeat regions (LCRs), which are preferred chromosome sites for rearrangements. Most of the deletions encompass the same approximately 3 or approximately 1.5 Mb region, with breakpoints at LCR A and D or at LCR A and B, respectively. We report on a patient with clinical features of the 22q deletion syndrome who presents a novel, atypical deletion, smaller than 1.5 Mb, with distal breakpoint in LCR B and proximal breakpoint within no known LCR site.
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