ArticleEuropean journal of pediatrics2013
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Article in European journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis.Archives of gynecology and obstetrics · 2025Pooled it
- Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.Orphanet journal of rare diseases · 2019Pooled it
- Modified Resistance Water Therapy for Children With 22q11.2 Deletion Syndrome and Cleft Palate: A Pilot Observational Study.Health science reports · 2026Article
- Playing CATCH-up: a case report of profound protein-losing enteropathy and gastrointestinal haemorrhage from intestinal lymphangiectasia in DiGeorge syndrome.European heart journal. Case reports · 2026Article
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.Molecular and cellular pediatrics · 2026Article
- Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification.Molecular genetics & genomic medicine · 2025Article
- Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.Orphanet journal of rare diseases · 2024Article
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- Variants inGenes · 2024Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
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- The impact of 22q11.2 copy-number variants on human traits in the general population.American journal of human genetics · 2023Article
- Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing.Journal of pediatric genetics · 2022Article
- An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.Orphanet journal of rare diseases · 2022Article
- Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation.Journal of clinical immunology · 2021Article
- Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.Orphanet journal of rare diseases · 2019Article
- Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2018Article
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- Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification.Anatolian journal of cardiology · 2018Article
Corrections and comments
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Authors and funding
16 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.
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