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Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Open accessAbstract
A 12-year-old boy currently is followed by multiple subspecialists for problems caused by the chromosome 22q11.2 deletion syndrome (22q11DS) (Figure). He was born via spontaneous vaginal delivery, weighing 3033 g, to a 31-year-old G3P3 mother after a full-term pregnancy complicated only by mild polyhydramnios. Family history was non-contributory. Apgar scores were 8 at 1 minute and 9 at 5 minutes. With the exception of a weak cry, the results of the infant’s initial examination were unremarkable, and he was moved to the well-baby nursery.
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“The deletions can also be detected in healthy individuals, an observation consistent with incomplete penetrance (50,96)”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [96]
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“Both deletions are in fact associated, with variable severity, with various neuropsychiatric disorders, including ASD, ID and schizophrenia, among others (50,96).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [96]
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“which is true for most of the genes and loci that have been identified.”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [96]
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Metadata
- Authors
- Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., Swillen, A., & Vorstman, J.
- Affiliations
- Centre for Addiction and Mental Health (CA)
- Bambino Gesù Children's Hospital (IT)
- Cincinnati Children's Hospital Medical Center (US)
- Hospital for Sick Children (CA)
- Sapienza University of Rome (IT)
- Hôpital de la Timone (FR)
- University of Pennsylvania (US)
- KU Leuven (BE)
- Utrecht University (NL)
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2011-08
- Volume
- 159
- Issue
- 2
- Pages
- 332-339.e1
- ISSN
- 0022-3476 (ISSN-L)
- PMC
- PMC3197829
- OpenAlex
- W2099235089
- Cited by
- 597
- References
- 47
- Citations by year
- 2026: 19 · 2025: 27 · 2024: 17 · 2023: 40 · 2022: 56 · 2021: 37 · 2020: 69 · 2019: 51 · 2018: 49 · 2017: 46 · 2016: 41 · 2015: 49 · 2014: 40 · 2013: 23 · 2012: 25
- FWCI
- 17.50
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Pediatrics (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Research Portal (King's College London) (publishedVersion, cc-by-nc-nd)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Lirias (submittedVersion, cc-by-nc-nd)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- Canadian Institutes of Health Research (79518)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Keywords
- 22q11.2 deletion syndrome, clinical management, patient care guidelines, congenital heart disease, immunodeficiency, hypoparathyroidism
- MeSH terms
- Child, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Genetic Counseling, Genetic Techniques, Humans, Male, Practice Guidelines as Topic
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