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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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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