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

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

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22q11.2 deletion syndrome

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Clinical guidelines: Developing guidelines

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

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Clinical features of 78 adults with 22q11 deletion syndrome

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The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

McDonald‐McGinn, D. M., Kirschner, R. E., Goldmuntz, E., Sullivan, K. E., Eicher, P. S., Gerdes, M., Moss, E., Solot, C. B., Wang, P., Jacobs, I. N., et al. (1999) · PubMed · Cited by 435

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

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Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

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A deletion in chromosome 22 can cause digeorge syndrome

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Microdeletion 22q11.2 syndrome: Does thymus incidental surgical resection affect its immunological profile?

Navarrete-Rodriguez, E. M., Del-Rio-Navarro, B. E., García-Fajardo, D. E., Baay-Guzman, G. J., Espinosa‐Padilla, S. E., Medina-Torres, E. A., Moguel-Molina, N. I., Sánchez-Curiel-Loyo, M., Nájera-Martínez, N., Navarro-Munguía, J., et al. (2018) · Allergologia et Immunopathologia · doi:10.1016/j.aller.2018.06.004 · Cited by 2

Differences in the Tensor Veli Palatini Muscle and Hearing Status in Children With and Without 22q11.2 Deletion Syndrome

Perry, J. L., Kotlarek, K. J., Spoloric, K., Baylis, A. L., Kollara, L., Grischkan, J. M., Kirschner, R. E., Bates, D. G., Smith, M., & Findlen, U. M. (2019) · The Cleft Palate-Craniofacial Journal · doi:10.1177/1055665619869142 · Cited by 2

Speech Surgery and Treatment of Velopharyngeal Insufficiency

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Early Clinical Investigations and Management of Syndromes Affecting Craniofacial and Dental Structures

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Evaluation of rotavirus vaccine administration among a 22q11.2DS patient population

McGregor, S., Boroditsky, M., Rohner, G. B., Loock, C., & Hildebrand, K. J. (2022) · Allergy Asthma and Clinical Immunology · doi:10.1186/s13223-022-00693-z · Cited by 2

Relationship between high trait anxiety in 22q11.2 deletion syndrome and the difficulties in medical, welfare, and educational services

Nakajima, N., Tanaka, M., Kanehara, A., Morishima, R., Kumakura, Y., Ohkouchi, N., Hamada, J., Ogawa, T., Tamune, H., Nakahara, M., et al. (2023) · Psychiatry and Clinical Neurosciences Reports · doi:10.1002/pcn5.80 · Cited by 2

Craniofacial Conditions

Fulton, G. K., Blessing, M. S., & Evans, K. N. (2023) · Avery's Diseases of the Newborn · doi:10.1016/b978-0-323-82823-9.00088-x · Cited by 2

Development and evaluation of an educational resource for parents of children with 22q11.2 deletion syndrome about the psychiatric manifestations of the condition

Blankenship, K., Chieffo, S., Morris, E. M., Slomp, C., Batallones, R., Prijoles, E. J., Hill-Chapman, C. R., & Austin, J. (2023) · Journal of Genetic Counseling · doi:10.1002/jgc4.1779 · Cited by 2

A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.

Egger, J. I. M., Verhoeven, W. M. A., Verbeeck, W., Sinnema, M., Stegmann, A. P. A., Stuurop, K., & de Leeuw, N. (2023) · PubMed Central · doi:10.36131/cnfioritieditore20230504 · Cited by 2

Effects of antibiotics, hospitalisation and surgical complications on self-reported immunological vulnerability following paediatric open-heart surgery and thymectomy: a single-centre retrospective cohort study

Kesäläinen, A., Rantanen, R., Honkila, M., Helminen, M., Rahkonen, O. P., Kallio, M., Ruuska, T. S., Kekäläinen, E., & Heinonen, S. (2024) · BMJ Paediatrics Open · doi:10.1136/bmjpo-2024-002651 · Cited by 2

A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome

Selten, I. S., Blok, J. M., Boerma, T., Djelantik, A. A. A. M. J., Houben, M. L., Wijnen, F. N. K., Zinkstok, J., Vorstman, J. A. S., & Fiksinski, A. (2024) · Journal of Intellectual Disability Research · doi:10.1111/jir.13196 · Cited by 4

Copy number variants in psychiatric disorders

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Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale

Pimenta, L. S. E., de Mello, C. B., Soares, D. C. D. Q., Dantas, A. G., Melaragno, M. I., Kulikowski, L. D., & Kim, C. A. (2019) · Estudos de Psicologia (Campinas) · doi:10.1590/1982-0275201936e180101 · Cited by 2

Federal clinical recommendations on diagnostics and treatment of hypoparathyroidism in the children and adolescents

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Zespół mikrodelecji 22q11.2 (zespół DiGeorge’a) bez współistniejącej wady serca – analiza fenotypu pacjentów i problemy diagnostyczne

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Velopharyngoplasty in patients with 22q11.2 microdeletion syndrome: outcomes following the Newcastle protocol

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Anaesthesia and orphan disease

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Diagnose eines 22q11.2-Mikrodeletionssyndroms im Rahmen einer neu aufgetretenen psychotischen Symptomatik

Kaltenboeck, A., Friedrich, F., Hinterbuchinger, B., Litvan, Z., & Mossaheb, N. (2016) · Neuropsychiatrie · doi:10.1007/s40211-016-0203-0 · Cited by 2

Communication in 22q11.2 Deletion Syndrome: a Brief Overview of the Profile, Intervention Approaches, and Future Considerations

Roche, L., Campbell, L., & Heussler, H. (2020) · Current Developmental Disorders Reports · doi:10.1007/s40474-020-00208-8 · Cited by 2

Chromosome 22q11.2 Deletion Syndrome

Pereira, E. M., & Marion, R. (2015) · Pediatrics in Review · doi:10.1542/pir.36.6.270 · Cited by 2

A Father and Son Diagnosed with DiGeorge Syndrome

Özer, M., & Aytekin, C. (2023) · Asthma Allergy Immunology · doi:10.21911/aai.044 · Cited by 2

Clinical characteristics and immunological status of patients with 22q11.2 deletion syndrome in Northern Thailand

Ua‐areechit, T., Varnado, P., Tengsujaritkul, M., Louthrenoo, O., Pongprot, Y., & Lao‐Araya, M. (2020) · Asian Pacific Journal of Allergy and Immunology · doi:10.12932/ap-241019-0671 · Cited by 2

Allergy and Immunology

Holzman, R. S. (2021) · Springer eBooks · doi:10.1007/978-3-030-60656-5_42 · Cited by 2

Immunodeficiency Syndromes

Schaffer, J. V., Makhija, M., & Paller, A. S. (2019) · Wiley eBooks · doi:10.1002/9781119142812.ch156 · Cited by 2

DELETION 22q11.2 (VELO‐CARDIO‐FACIAL SYNDROME/DIGEORGE SYNDROME)

McDonald‐McGinn, D. M., Jeong, S., McGinn, M., Zackai, E. H., & Unolt, M. (2020) · doi:10.1002/9781119432692.ch21 · Cited by 2

Tight Interdigitating Developmental Processes within the Thymus; Lessons from Primary Immunodeficiency with Autoimmunity

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Mental health in adults with 22q11.2 deletion syndrome

Van, L., Bassett, A. S., Boot, E., & Corral, M. R. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-816047-3.00004-6 · Cited by 1

Digeorge syndrome, schizophrenia, intellectual disability and borderline personality disorder: A case report

Khaleque, A., & Bhandarkar, R. (2023) · Clinical Medicine Insights Psychiatry · doi:10.1177/11795573231168518 · Cited by 1

Phonemic–Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study

Sepúlveda, E. M., Rubio-Lorca, M., Pulido-García, N., Muriel, N. S., & Espinosa-Villarroel, J. (2025) · Brain Sciences · doi:10.3390/brainsci15030298 · Cited by 1

Understanding obesity in children with 22q11.2 deletion syndrome

Sarli, W. M., Cerutti, M., Pontone, M., Guarnieri, V., Soldovieri, S., Giotta, M., Ricci, S., Azzari, C., & Stagi, S. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1628796 · Cited by 2

Pharyngeal Arches, Chapter 3: Craniofacial Syndromes

Episalla, N. C., Zhang, A., Mantilla‐Rivas, E., Shur, N. E., Oh, H. S., Barrera, M. C., Oh, A. K., Sentosa, J., Boyajian, M. J., & Rogers, G. F. (2025) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000011974 · Cited by 1

Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature

Momotova, A. A., Ivannikova, T. E., Vitebskaya, A. V., & Tikhonovich, Y. V. (2025) · Problems of Endocrinology · doi:10.14341/probl13555 · Cited by 1

El síndrome 22q11.2DS como un subtipo genético de esquizofrenia

Huertas-Rodríguez, C. K., Payán‐Gómez, C., & Forero‐Castro, M. (2014) · Revista Colombiana de Psiquiatría · doi:10.1016/j.rcp.2014.09.002 · Cited by 1

The 22q11.2 Deletion Syndrome

Goldmuntz, E. (2015) · KARGER eBooks · doi:10.1159/000375208 · Cited by 1

Tratamiento con hormona de crecimiento en 2 pacientes con deleción 22q11.21

Bahillo-Curieses, P., Prieto‐Matos, P., Fabián, A. H., & Vázquez-Martín, S. (2015) · Medicina Clínica · doi:10.1016/j.medcli.2015.09.003 · Cited by 1

Communication and Feeding/Swallowing Disorders in 22q11.2 Deletion Syndrome: A Primer for the Pediatric Speech-Language Pathologist

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Optimizing Safety in Velopharyngeal Insufficiency Surgery for Children with 22q11.2 Deletion Syndrome

Kim, A. Y., Ranganathan, K., Redett, R. J., Beck, N. M., Hoover-Fong, J. E., & Steinberg, J. P. (2021) · FACE · doi:10.1177/27325016211005127 · Cited by 1

Biological Basis of Branchial Arch Diseases

Meyer, U. (2021) · Springer eBooks · doi:10.1007/978-3-030-46024-2_10 · Cited by 1

Genetic Testing and Screening of Children

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Not just a hypocalcemic seizure: DiGeorge syndrome

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Congenital heart disease and cardiovascular abnormalities associated with 22q11.2 deletion syndrome

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Educational challenges for 22q11.2 deletion syndrome in Japan : Findings from a mixed methods survey

Tanaka, M., Kanehara, A., Morishima, R., Kumakura, Y., Okouchi, N., Nakajima, N., Hamada, J., Ogawa, T., Tamune, H., Nakahara, M., et al. (2023) · Journal of Applied Research in Intellectual Disabilities · doi:10.1111/jar.13079 · Cited by 1

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients

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Seizures in a teenager as a manifestation of 22q11.2 deletion syndrome

Boyarchuk, O. R., & Volianska, L. A. (2023) · Modern pediatrics Ukraine · doi:10.15574/sp.2023.133.110 · Cited by 1

Impact of high‐risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study

Martin, K. A., Norton, M. E., MacPherson, C., Demko, Z., Egbert, M., Haeri, S., Malone, F. D., Wapner, R. J., Roman, A. S., Khalil, A. A., et al. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6483 · Cited by 1

What can we learn from scoliosis in children with the 22q11.2 deletion syndrome? Prognostic factors at pre-adolescent age for fast progressive, mild and self-resolving forms during adolescence

Donzelli, S., Lafranca, P. P. G., van Smeden, M., Castelein, R. M., & Schlösser, T. P. C. (2025) · Spine Deformity · doi:10.1007/s43390-025-01073-4 · Cited by 1

Healthcare Transition to Adulthood in Patients with 22q11.2 Deletion Syndrome: A Comprehensive Literature Review and Transition Framework

MacIsaac, M. F., Mattia, A. V., Montes, L. A., Adair, A., Crisp, T. O., Fritz, A. M., Rottgers, S. A., & Halsey, J. N. (2025) · The Cleft Palate-Craniofacial Journal · doi:10.1177/10556656251331392 · Cited by 1

Síndrome de Deleción 22q11.2 y su asociación con Trastornos Psiquiátricos. A propósito de un caso

Alberdi‐Páramo, Í., Jiménez, A. L., Fernández, N. G., & Moreno, R. P. (2018) · Revista de Psiquiatría Infanto-Juvenil · doi:10.31766/revpsij.v35n1a5 · Cited by 1

22q11.2 Deletion Syndrome

Goldenberg, P. C. (2018) · Springer eBooks · doi:10.1007/978-3-319-98414-8_21 · Cited by 1

Combined immunodeficiencies with associated or syndromic features

Yazdani, R., Tavakol, M., Motlagh, A. V., Shafiei, A., Darougar, S., Chavoshzadeh, Z., Abolhassani, H., Lavin, M. F., & Ochs, H. D. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821028-4.00008-7 · Cited by 1

Seltene Erkrankungen der Mundhöhle, des Halses und des Pharynx

Reichel, C. A. (2021) · Laryngo-Rhino-Otologie · doi:10.1055/a-1331-2851 · Cited by 1

22q11.2 Deletion Syndrome

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Genetics of Chromosome 22q11.2 Deletion Syndrome

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Drug Treatment of Psychiatric Symptoms Occurring in the Context of Other Disorders

(2021) · Wiley eBooks · doi:10.1002/9781119870203.mpg010 · Cited by 1

Rare and Complex Cardiac Anomalies Associated with 22q11.2 Deletion: An Ultrasonographic Visual Trip from Diagnosis until DeliveryPreprint

Vlădăreanu, R., Maier, C., Tocariu, R., Șerban, M., & Brătilă, E. (2023) · Preprints.org · doi:10.20944/preprints202309.1060.v1 · Cited by 1

Combinatorial effects of gene dosage, polygenic background and environment on complex traitsPreprint

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Investigação da variação no número de cópias genômicas (CNVs) em pacientes com anomalias congênitas e atraso de desenvolvimento neuropsicomotor (ADNPM) pela técnica de MLPA (Multiplex Ligation-dependent Probe Amplification)

Dutra, R. L. (2014) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2014.tde-25112014-120744 · Cited by 1

Endocrine/Metabolic

Thompson, N. C. P., & Tassone, R. F. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781107375338.013

Alta prevalencia de hernias abdominales en pacientes con síndrome velocardiofacial

José Andrés Justiniano, D., María Luisa Guzmán, G., Carmen Astete, A., Teresa Aravena, C., Marta Arriaza, Z., Mariana Aracena, A., & Repetto, G. M. (2012) · Revista chilena de pediatría · doi:10.4067/s0370-41062012000100005

Caracterização das infeções em doentes com Síndrome de deleção 22q11.2

de Oliveira, M. C., Teixeira, C. A. C., Vasconcelos, J. H. L., Neves, E., Álvares, S., Guedes, M., & Marques, L. (2017) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.25753/birthgrowthmj.v22.i1.12887

The cognitive development of children with the 22q11.2 deletion syndrome

Duijff, S. N. (2012) · Utrecht University Repository (Utrecht University)

22q11.2 Deletion (DiGeorge) Syndrome: A Mother’s Open Letter

Baldini, A., Digilio, M. C., & Marino, B. (2011) · Cardiogenetics · doi:10.4081/cardiogenetics.2011.e11

Understanding speech problems in 22q11.2 deletion syndrome for outcome prediction

Spruijt, N. E. (2014) · Utrecht University Repository (Utrecht University)

For peer review only CASE -FATALITY RATE IN 22Q11 MICRODELETION SYNDROME PATIENTS

Repetto, G. M., Luisa, M., Mackenna, L. C., & Mann, F. A. G. (2014)

Immunodeficiency in children with dysmorphic disorders

Ogrodowczyk, M., Olszak, N., Pietraszewska, K., & Polańska, B. (2015) · Pediatria i Medycyna Rodzinna · doi:10.15557/pimr.2015.0012

Caracterização fenotípica em indivíduos com microarranjos na região cromossômica 22q11

Empke, S. L. L. (2016) · doi:10.11606/d.61.2016.tde-07032016-173433

CLINICAL CASE ROUNDS IN CHILD AND ADOLESCENT PSYCHIATRY Anxiety Disorders and Perceptual Disturbances in Adolescents with 22q11.2 Deletion Syndrome Treated with SSRI: A Case Series

Stachon, A. C., & Souza, C. M. D. (2011)

Investigação clínica e citogenética molecular em pacientes com atraso de desenvolvimento neuropsicomotor associado à malformação congênita

Piazzon, F. (2016) · doi:10.11606/t.5.2016.tde-24032016-145538

Investigação da variação no número de cópias gênicas em crianças com defeito cardíaco conotruncal

Campos, C. M. R. (2014) · doi:10.11606/t.5.2014.tde-20102014-115515

Aneuploidy Screening: The Ongoing Role of First-Trimester Ultrasound

Rauch, K., Hicks, M. A., Adekola, H., & Abramowicz, J. S. (2015) · Springer eBooks · doi:10.1007/978-3-319-20203-7_8

Thymus Abnormalities: DiGeorge Syndrome and Winged Helix Deficiency

Davies, E. G. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-374279-7.18002-6

22q11.2 Deletion Syndrome: A Paradigmatic Copy-Number-Variant (CNV) Disorder

Cubells, J. F. (2016) · Springer eBooks · doi:10.1007/978-3-319-18096-0_61

Conducta práctica ante una alteración del crecimiento

Bouhours‐Nouet, N., Donzeau, A., & Coutant, R. (2015) · EMC - Pediatría · doi:10.1016/s1245-1789(15)75072-9

Asociación Colombiana de Infectología

Vásquez‐Echeverri, E., Sierra, F., Trujillo-Vargas, C. M., Orrego-Arango, J. C., Samudio, C. G. G., Lince, R., & Restrepo, J. L. F. (2016)

Особенности диагностики и тактики ведения пациента с синдромом Ди Джорджи

Koreniuk, O. S., Yaroshevska, T., Samoilenko, I. H., & Баралей, Т. В. (2016) · CHILD`S HEALTH · doi:10.22141/2224-0551.3.71.2016.76343

Novel Plicating “Wrap” Technique for Treating Anterior Urethral Ballooning

Garat, J. M., Scivoli, F., & Bujons, A. (2016) · Urology · doi:10.1016/j.urology.2016.11.001

Conduite pratique devant une anomalie de la croissance

Bouhours‐Nouet, N., Donzeau, A., & Coutant, R. (2017) · Journal de Pédiatrie et de Puériculture · doi:10.1016/j.jpp.2017.02.004

A molecular analysis of 22q11.2 deletion syndrome

Salaka, A. S. (2017) · ORCA Online Research @Cardiff (Cardiff University)

From general developmental disability to 22Q11.2 deletion syndrome: understanding parental experiences: a mixed methods analysis

Goodwin, J. (2017) · NOVA (University of Newcastle Australia)

Dancing in the (B)rain

van Duin (2018) · Research Publications (Maastricht University) · doi:10.26481/dis.20181115ed

Loss of function mutation of mouse Snap29 on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patientsPreprint

Keser, V., Lachance, J.-F. B., Alam, S., Lim, Y., Scarlata, E., Kaur, A., Fang, Z.-T., Lv, S., Lachapelle, P., O'Flaherty, C., et al. (2019) · bioRxiv · doi:10.1101/559088

Genetic Syndromes and Associated Cariovascular Anomalies in Adults: A Singapore Perspective

Vasanwala, F. F., & Ong, C. Y. (2019) · The Singapore Family Physician · doi:10.33591/45.1.o1

Clinical case of congenital cleft palate in 22q11.2 deletion syndrome

Ginter, O. V., Namazova-Baranova, L. S., Mospan, T. Y., Jourkova, N., Davydova, I. V., & Pushkov, A. A. (2019) · Stomatology · doi:10.17116/stomat20199801161

Di George syndrome: Catch 22 (A case report)

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Sindrome de DiGeorge/velocardiofacial: reporte de un caso

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