ArticleAmerican journal of medical genetics. Part A2018
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- Cross-Sectional Survey of Obstetrical Providers' Knowledge, Attitudes, and Use of Noninvasive Prenatal Testing for 22q11.2 Deletion.AJP reports · 2026Article
- Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Observational
- Evaluating algorithmic approaches to rare disease case-finding: a retrospective validation study using electronic health records.Orphanet journal of rare diseases · 2026Article
- Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context.Frontiers in genetics · 2026Article
- Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study.BMC pregnancy and childbirth · 2025Article
- Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome.Orphanet journal of rare diseases · 2025Article
- Hardiness as a Resilience Factor for Adaptation in Families of Children With 22q11.2 Deletion Syndrome: A Mixed Methods Study of Parents' Perspectives.Journal of intellectual disabilities : JOID · 2024Article
- Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.Prenatal diagnosis · 2024Review
- Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.American journal of obstetrics and gynecology · 2024Article
- In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.PloS one · 2024Article
- Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation.Translational psychiatry · 2023Article
- Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot.CJC pediatric and congenital heart disease · 2023Review
- Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.Medicina (Kaunas, Lithuania) · 2023Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Review
- The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome.Journal of personalized medicine · 2022Review
- Article
- Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.Genes · 2022Article
- Evaluation of rotavirus vaccine administration among a 22q11.2DS patient population.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.Orphanet journal of rare diseases · 2022Article
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Authors and funding
11 authors.
Funding
Abstract
Clinical molecular testing has been available for 22q11.2 deletion syndrome (22q11.2DS) for over two decades yet under-recognition and diagnostic delays are common. To characterize the "diagnostic odyssey" in 22q11.2DS we studied 202 well-characterized unrelated adults, none ascertained through an affected relative. We used a regression model to identify clinical and demographic factors associated with length of time to molecular diagnosis. Kaplan-Meier analysis compared time to diagnosis for the molecular testing era (since 1994) and earlier birth cohorts. The results showed that the median time to molecular diagnosis of the 22q11.2 deletion was 4.7 (range 0-20.7) years. Palatal and cardiac anomalies, but not developmental delay/intellectual disability, were associated with a shorter time to molecular diagnosis. Non-European ethnicity was associated with longer time to diagnosis. Inclusion of a cohort from another 22q11.2DS center increased power to observe a significantly earlier diagnosis for patients born in the molecular testing era. Nonetheless, only a minority were diagnosed in the first year of life. On average, patients were seen in seven (range 2-15) different clinical specialty areas prior to molecular diagnosis. The findings indicate that even for those born in the molecular testing era, individuals with 22q11.2DS and their families face a diagnostic odyssey that is often prolonged, particularly in the absence of typical physical congenital features or for those of non-European ancestry. The results support educational efforts to improve clinical recognition and testing, and ultimately newborn screening as a means of maximizing early detection that would provide the best opportunity to optimize outcomes.
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