ArticleJournal of medical genetics2009
Premature death in adults with 22q11.2 deletion syndrome.
Article in Journal of medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 4 of them syntheses that pooled it.
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The trial behind it
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Who cites it
56 citing papers in PubMed, 4 syntheses or guidelines pooled it, 90 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
- Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review.European child & adolescent psychiatry · 2020Pooled it
- The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.American journal of medical genetics. Part A · 2018Pooled it
- Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.European journal of pediatrics · 2014Guideline
- Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three-Cohort European Study.Journal of intellectual disability research : JIDR · 2025Article
- Unilateral Lung Agenesis: A Systematic Review of Prevalence, Anatomical Variants, and Clinical Implications.Diagnostics (Basel, Switzerland) · 2025Review
- Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2024Article
- Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review.Journal of pediatric genetics · 2024Article
- Article
- DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.JCEM case reports · 2024Article
- Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.Current allergy and asthma reports · 2023Review
- Article
- Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.BMC endocrine disorders · 2022Review
- Article
- 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.Children (Basel, Switzerland) · 2022Review
- Rare Diseases of the Oral Cavity, Neck, and Pharynx.Laryngo- rhino- otologie · 2021Review
- Prenatal screening of DiGeorge (22q11.2 deletion) syndrome by abnormalities of the great arteries among Thai pregnant women.Obstetrics & gynecology science · 2020Article
- All-cause mortality and survival in adults with 22q11.2 deletion syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The Genetics and Epigenetics of 22q11.2 Deletion Syndrome.Frontiers in genetics · 2019Review
- 22q11.2 Deletion Syndrome-Associated Parkinson's Disease.Movement disorders clinical practice · 2019Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
background22q11.2 deletion syndrome (22q11.2DS) is a multisystem disease with a prevalence of 1/4000. Variable expression of congenital and later onset features contributes to its under-recognition. Longevity in those surviving childhood is believed to be normal but data are limited.
methodsWe prospectively followed 264 subjects; 102 adults (>17 years) with 22q11.2DS (44 male (M), 58 female (F); mean (SD) age 33.6 (10.9) years) and their 162 unaffected siblings (77 M, 85 F; mean age 36.1 (12.2) years). We compared survival between groups using Kaplan-Meier estimates.
resultsTwelve (11.8%; 4 M, 8 F) individuals with 22q11.2DS and no siblings died (p<0.0001). Survival to ages 40 and 50 years was 89.9% and 73.9%, respectively. Median age at death was 41.5 (range 18.1-68.6) years. Deaths included two (7.7%) of 26 subjects with neither major congenital heart disease (CHD) nor schizophrenia. Four of six sudden and unexpected deaths occurred in individuals with no major CHD. There was no evidence of cancer or coronary artery disease or family history of sudden death in the 12 patients who died, six of whom had autopsies. DISCUSSION: Individuals with 22q11.2DS who survive childhood have diminished life expectancy and increased risk of sudden death not attributable to any single factor. Some sudden and/or premature deaths observed in the general population may represent undiagnosed 22q11.2DS. Increased recognition of the syndrome by family doctors, specialists and coroners will be essential to facilitate the tissue studies needed to determine underlying mechanisms.
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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.