SynthesisOrphanet journal of rare diseases2019
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
Synthesis in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Pooled it
- Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis.Archives of gynecology and obstetrics · 2025Pooled it
- Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study.Journal of clinical laboratory analysis · 2025Review
- An exploratory fetal MRI study examining the impact of 22q11.2 microdeletion syndrome on early brain growth.Journal of neurodevelopmental disorders · 2025Article
- Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.Journal of endocrinological investigation · 2025Article
- The Effects of Maternal Subclinical Hypothyroidism on Fetal Thymus Size: A Prospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- Advancing Understanding of Anorectal Malformations Through Microfocus Computed Tomography Imaging of Resected Material.Gastro hep advances · 2025Article
- Article
- In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024Review
- Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.Human genetics · 2023Article
- Article
- Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.Journal of clinical immunology · 2023Review
- 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.International journal of medical sciences · 2023Article
- Article
- 22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation.Translational pediatrics · 2021Article
- Spatiotemporal 22q11.21 Protein Network Implicates DGCR8-Dependent MicroRNA Biogenesis as a Risk for Late-Fetal Cortical Development in Psychiatric Diseases.Life (Basel, Switzerland) · 2021Article
- Article
- Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.AIMS molecular science · 2021Article
- 22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature.Journal of pediatric genetics · 2020Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power.
resultsEight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (OR
conclusionsThe lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes.
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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.