Cited by 601Genomic variations and chromosomal abnormalitiesImmunodeficiency and Autoimmune DisordersSexual Differentiation and Disorders

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Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

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Bassett, Anne S., McDonald-McGinn, Donna M., Devriendt, Koen, Digilio, Maria Cristina, Goldenberg, Paula, Habel, Alex, Marino, Bruno, Oskarsdottir, Solveig, Philip, Nicole, Sullivan, Kathleen, Swillen, Ann, Vorstman, Jacob·2011·The Journal of Pediatrics

DOI 10.1016/j.jpeds.2011.02.039PMC PMC3197829

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Abstract

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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Chapter 2. The Neurological Examination for Neuropsychiatric Assessment
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Chapter 25. Somatic Symptom and Related Disorders
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Chapter 1. An Internist’s Approach to the Neuropsychiatric Patient
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Chapter 6. Cardiovascular Disease
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Chapter 7. Endocrine Disorders and Their Psychiatric Manifestations
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Chapter 24. Insomnia
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Chapter 23. Chronic Pain
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Chapter 3. The Bedside Cognitive Examination in Medical Psychiatry
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Chapter 17. Psychotic Disorders Due to Medical Illnesses
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Chapter 10. Gastroenterological Disease in Patients With Psychiatric Disorders
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Index
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Chapter 16. Neurodevelopmental Disorders
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Chapter 18. Catatonia in the Medically Ill Patient
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Chapter 12. Neurological Conditions and Their Psychiatric Manifestations
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Chapter 13. Cancer: Psychiatric Care of the Oncology Patient
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Chapter 19. Mood Disorders Due to Medical Illnesses
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Front Matter
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Chapter 15. Women’s Mental Health and Reproductive Psychiatry
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Chapter 8. Inflammatory Diseases and Their Psychiatric Manifestations
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Chapter 14. Dermatology: Psychiatric Considerations in the Medical Setting
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Chapter 9. Infectious Diseases and Their Psychiatric Manifestations
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Chapter 21. Substance Use Disorders in the Medical Setting
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Chapter 5. Toxicological Exposures and Nutritional Deficiencies in the Psychiatric Patient
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Chapter 11. Renal Disease in Patients With Psychiatric Illness
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The spectrum of congenital heart disease and associated interventions in a national cohort of patients with 22q11.2 deletion syndromePreprint
Ryan, C., Mulcahy, W., Kelleher, S., & McMahon, C. J. (2026) · Research Square · doi:10.21203/rs.3.rs-10776850/v1
Infantile 22q11.2 deletion syndrome with secondary monogenic variants following inconclusive whole exome sequencing: a case report
Abadi, A., Ghanem, U. I., Badran, B., Abdallah, M., Ba'ba', A., Hijawi, F. A., Sharaf, M., & Hajji, R. A. (2026) · Frontiers in Pediatrics · doi:10.3389/fped.2026.1964147
22q11.2 Deletion Syndrome: A Comprehensive Review for Pediatricians From Diagnosis to Adult Care Transition
Ali, S., & Gupta, P. (2026) · Pediatrics in Review · doi:10.1542/pir.2025-006952
Modified Resistance Water Therapy for Children With 22q11.2 Deletion Syndrome and Cleft Palate: A Pilot Observational Study
Baslík, V., Vokurková, J., Čurdová, D., Hájek, P., Veselsky, R., Marcián, P., & Košková, O. (2026) · Health Science Reports · doi:10.1002/hsr2.73293
‘A Constant Battle for Services’: Parents' Experiences on Healthcare Services for Children With 22q11 Deletion Syndrome
Ayoub, S., Meier, S. M., Cytrynbaum, C. S., Swillen, A., Lingley‐Pottie, P., Shugar, A. L., Graf, N., Carbyn, H., Hossain, A., Rowarth, N. M., et al. (2026) · Health Expectations · doi:10.1111/hex.70911
Self-citation

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)
ORCID: Bassett, Anne S.
Marino, Bruno
Sullivan, Kathleen
Swillen, Ann
Vorstman, Jacob
Venue: The Journal of Pediatrics
Publisher: Elsevier BV
Published: 2011-08
Volume: 159
Issue: 2
Pages: 332-339.e1
ISSN: 0022-3476 (ISSN-L)
DOI: 10.1016/j.jpeds.2011.02.039
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: cc-by-nc-nd
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
creativecommons.org/licenses/by-nc-nd/3.0/ (vor, 715 d)
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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Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

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