ArticleArchives of disease in childhood1998
A population study of chromosome 22q11 deletions in infancy.
Article in Archives of disease in childhood, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 1 of them a synthesis that pooled it.
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Who cites it
99 citing papers in PubMed, 1 synthesis or guideline pooled it, 250 citations in OpenAlex.
- Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.Molecular genetics & genomic medicine · 2023Pooled it
- Understanding obesity in children with 22q11.2 deletion syndrome.Frontiers in endocrinology · 2025Article
- Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study.Molecular psychiatry · 2024Article
- Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion Syndrome.The Neurohospitalist · 2024Article
- The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.International journal of molecular sciences · 2024Review
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- Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation.Journal of clinical immunology · 2021Article
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- Neuroimaging Phenotypes Associated With Risk and Resilience for Psychosis and Autism Spectrum Disorders in 22q11.2 Microdeletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2021Review
- Long Noncoding RNAFrontiers in cell and developmental biology · 2021Article
- Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion.Molecular autism · 2020Article
- Anaesthesia concerns and perioperative management in a child with DiGeorge syndrome with corrected tetralogy of Fallot with pulmonary atresia posted for laparoscopic orchidopexy: Case report.Indian journal of anaesthesia · 2020Article
- Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.American journal of speech-language pathology · 2019Review
- The Neuroanatomy of Autism Spectrum Disorder Symptomatology in 22q11.2 Deletion Syndrome.Cerebral cortex (New York, N.Y. : 1991) · 2019Article
- Characteristics and Outcomes of Heart Transplantation in DiGeorge Syndrome.Pediatric cardiology · 2019Article
- A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome.Clinical diabetes and endocrinology · 2019Article
- Clinical and immunophenotypic characteristics of patients with chromosome 22q11.2 deletion syndrome: a single institution's experience.Turk pediatri arsivi · 2019Article
- Individuals with 22q11.2 deletion syndrome show intact prediction but reduced adaptation in responses to repeated sounds: Evidence from Bayesian mapping.NeuroImage. Clinical · 2019Article
39 more citing papers are in PubMed but not listed here.
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
aimsTo determine the prevalence of submicroscopic deletions within chromosome band 22q11 in infants with significant heart disease and compare this with the prevalence of other chromosomal abnormalities causing significant heart disease. To determine a minimum prevalence of deletions within chromosome band 22q11 in infants in the general population.
methodsChromosome analysis was performed on samples from infants born in the former UK Northern Health Region in 1994 and 1995 who either had significant heart disease or who were suspected to have a chromosome band 22q11 deletion following referral to the Northern Genetics Service. Significant heart disease was defined as major structural malformation or cases where invasive investigation or intervention was required in infancy.
resultsChromosome band 22q11 deletions were identified in nine infants in a population of 69,129 livebirths, giving a minimum prevalence of 13 per 100,000 (95% confidence interval 4.5 to 21.5). Six cases had significant heart disease, one of whom died before diagnosis. In the same population there were 53 cases of trisomy 21, 15 of whom had significant heart disease.
conclusionThe most common chromosomal cause of significant congenital heart disease remains trisomy 21, while the second most common chromosomal cause is deletion in chromosome band 22q11.
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