ReviewDevelopmental disabilities research reviews2008
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.
Review in Developmental disabilities research reviews, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00556530 (Genetic Modifiers of 22q11.2 Deletion Syndrome), which is not on this map. Cited by 54 papers, 2 of them syntheses that pooled it.
What it found
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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.
Genetic Modifiers of 22q11.2 Deletion Syndrome
Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 122 citations in OpenAlex.
- Pooled it
- Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.Orphanet journal of rare diseases · 2019Pooled it
- Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH.Clinical case reports · 2025Article
- Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.BMC pediatrics · 2024Review
- Article
- Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review.Molecular genetics & genomic medicine · 2024Review
- 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.Molecular genetics & genomic medicine · 2023Article
- 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.International journal of medical sciences · 2023Article
- The 22q11.2 Low Copy Repeats.Genes · 2022Review
- Mechanisms of structural chromosomal rearrangement formation.Molecular cytogenetics · 2022Review
- Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders.Cells · 2021Review
- Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders.Molecular brain · 2021Article
- A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome.Case reports in genetics · 2021Article
- Genomic Chaos Begets Psychiatric Disorder.Complex psychiatry · 2020Review
- Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus.Translational psychiatry · 2020Article
- Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method.BioMed research international · 2020Article
- [Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Article
- In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?Journal of neurodevelopmental disorders · 2019Review
- Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion.Molecular genetics & genomic medicine · 2018Article
- Minor pulmonary malformations in a child.Breathe (Sheffield, England) · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Several recurrent, constitutional genomic disorders are present on chromosome 22q. These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent t(11;22) supernumerary der(22) syndrome (Emanuel syndrome). The rearrangement breakpoints on 22q cluster around the chromosome-specific segmental duplications of proximal 22q11, which are involved in the etiology of these disorders. While the deletions are the result of nonallelic homologous recombination (NAHR) between low copy repeats or segmental duplications within 22q11, the t(11;22) is the result of rearrangement between palindromic AT-rich repeats on 11q and 22q. Here we describe the mechanisms responsible for these recurrent rearrangements, discuss the recurrent deletion endpoints that are the result of NAHR between chromosome 22q specific low copy repeats as well as present current diagnostic approaches to deletion detection.
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.