ReviewChildren (Basel, Switzerland)2022
Deletion Syndrome 22q11.2: A Systematic Review.
Review in Children (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Pooled it
- Thymus transplantation for DiGeorge Syndrome: a systematic review.Pediatric surgery international · 2025Pooled it
- Mandibular trabecular microarchitecture as a radiographic biomarker of bone health in children with 22q11.2 deletion syndrome.BMC pediatrics · 2026Article
- Time poverty of families of children with 22q11DS: a healthcare professional perspective.BMC pediatrics · 2026Article
- Protecting Kidney Health in the First 1000 Days: The Pediatrician's Role in Safeguarding the Weakest.Diseases (Basel, Switzerland) · 2026Review
- 22q11.2 Deletion Syndrome, Oral-Maxillo-Facial Manifestations and Cognitive Functioning: Three Illustrative Case Reports.Children (Basel, Switzerland) · 2026Article
- Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.BMC pediatrics · 2026Article
- Infantile 22q11.2 deletion syndrome with secondary monogenic variants following inconclusive whole exome sequencing: a case report.Frontiers in pediatrics · 2026Article
- DiGeorge Syndrome Complicated by Secondary Antiphospholipid Syndrome Presenting With Vascular Thrombosis.Clinical case reports · 2026Article
- Evaluating the effectiveness of routine noninvasive prenatal screening for CNVs in 22q11.2 region in a cohort of 38,495 pregnancies.Scientific reports · 2025Article
- Aripiprazole for treatment of attenuated psychosis syndrome in an adolescent with 22q11.21 deletion syndrome: A case report.Medicine · 2025Article
- 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
- Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate.Human molecular genetics · 2025Article
- DiGeorge Syndrome in newborns conceived from assisted reproductive techniques: is preimplantation screening necessary? A discussion of two cases.Journal of assisted reproduction and genetics · 2025Article
- Evaluation of a Deep Learning and XAI based Facial Phenotyping Tool for Genetic Syndromes: A Clinical User Study.medRxiv : the preprint server for health sciences · 2025Article
- The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden.Orphanet journal of rare diseases · 2025Article
- Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.Clinical reviews in allergy & immunology · 2025Review
- Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.Scientific reports · 2025Article
- Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.PloS one · 2025Article
- A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications.Frontiers in genetics · 2025Article
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 at 3 institutions in 2 countries.
Funding
Abstract
22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities.
Indexed as
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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.