ArticleJournal of medical genetics1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 332 papers, 6 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
332 citing papers in PubMed, 6 syntheses or guidelines pooled it, 1,194 citations in OpenAlex.
- Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature.Journal of medical genetics · 2025Pooled it
- Chemokine Dysregulation and Neuroinflammation in Schizophrenia: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.American journal of medical genetics. Part A · 2022Pooled it
- Immune System Abnormalities in Schizophrenia: An Integrative View and Translational Perspectives.Frontiers in psychiatry · 2022Pooled it
- Neurocognitive Functioning in Patients with 22q11.2 Deletion Syndrome: A Meta-Analytic Review.Behavior genetics · 2018Pooled it
- Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.European journal of pediatrics · 2014Guideline
- Vitamin D status and the immune assessment in 22q11.2 deletion syndrome.Clinical and experimental immunology · 2020Trial
- Copy number variants in short children born small for gestational age.Hormone research in paediatrics · 2014Trial
- Mandibular trabecular microarchitecture as a radiographic biomarker of bone health in children with 22q11.2 deletion syndrome.BMC pediatrics · 2026Article
- [Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature].Problemy endokrinologii · 2025Review
- The role of autoantibodies in the neuropsychiatric manifestations of 22q11 deletion syndrome.Acta neuropsychiatrica · 2025Review
- Genetic screening in a large Chinese cohort of adult-onset non-surgical hypoparathyroidism.Endocrine · 2025Article
- Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome.BMC endocrine disorders · 2025Article
- Tracheal Compression on Chest X-ray Leading to the Diagnosis of Right Aortic Arch in 22q11.2 Deletion Syndrome.Cureus · 2025Article
- Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.Journal of clinical laboratory analysis · 2025Article
- Finnish nationwide controlled register study found increased inpatient infections in children with 22q11.2 deletion syndrome.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Vaccine immunity in patients with 22q11.2 microdeletion syndrome.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025Observational
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Understanding obesity in children with 22q11.2 deletion syndrome.Frontiers in endocrinology · 2025Article
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
272 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
- Commented on by
- Commented on by
Authors and funding
25 authors at 1 institution in 1 country.
Funding
Abstract
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.
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.