Research graph
References from 22q11.2 Deletion Syndrome: A Comprehensive Review for Pediatricians From Diagnosis to Adult Care Transition. Local targets link to admitted publications; unresolved targets remain external evidence.
Discussions on a new concept of the cellular base of immunology
10.1016/s0022-3476(65)81796-6 · 1965 · External reference
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
10.1136/jmg.34.10.798 · 1997 · External reference
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
10.1136/jmg.30.10.822 · 1993 · External reference
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
10.1136/adc.2003.026880 · 2004 · External reference
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
10.1007/s004390050786 · 1998 · External reference
The Philadelphia story: the 22q11.2 deletion: report on 250 patients
1999 · External reference
22q11.2 deletion syndrome
10.1038/nrdp.2015.71 · 2015 · External reference
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population
10.1542/peds.112.1.101 · 2003 · External reference
The annual incidence of DiGeorge/velocardiofacial syndrome
10.1136/jmg.35.9.789-a · 1998 · External reference
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
10.1097/00125817-200101000-00006 · 2001 · External reference
22q11.2 deletion syndrome: A tiny piece leading to a big picture
10.1002/ajmg.a.40653 · 2018 · External reference
Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening
10.9778/cmajo.20200294 · 2021 · External reference
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
10.1086/302343 · 1999 · External reference
Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes
10.1007/s12016-025-09035-4 · 2025 · External reference
Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome
10.1007/s11882-013-0384-6 · 2013 · External reference
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development
10.1007/s00246-009-9613-0 · 2010 · External reference
Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method
10.1155/2020/6945730 · 2020 · External reference
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
10.1542/peds.2008-0297 · 2008 · External reference
Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples
10.1186/s13039-017-0308-6 · 2017 · External reference
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
10.1038/ejhg.2015.219 · 2016 · External reference
Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome
10.1007/s00431-010-1161-3 · 2010 · External reference
Functional outcomes of adults with 22q11.2 deletion syndrome
10.1038/gim.2012.66 · 2012 · External reference
What is new with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia
10.1002/ajmg.a.40637 · 2018 · External reference
Palatal evaluation and treatment in 22q11.2 deletion syndrome
10.1002/ajmg.a.61152 · 2019 · External reference
Otolaryngologic manifestations of the 22q11.2 deletion syndrome
10.1001/archotol.128.12.1408 · 2002 · External reference
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients
10.1089/gte.1997.1.99 · 1997 · External reference
Velopharyngeal insufficiency clinic: the first 18 months
2008 · External reference
Unresolved reference
2025 · External reference
Practical guidelines for managing patients with 22q11.2 deletion syndrome
10.1016/j.jpeds.2011.02.039 · 2011 · External reference
Language skills in 5-8-year-old children with 22q11 deletion syndrome
10.1080/13682820500361497 · 2006 · External reference
Communication issues in 22q11.2 deletion syndrome: children at risk
10.1097/00125817-200101000-00015 · 2001 · External reference
Language skills in children with velocardiofacial syndrome (deletion 22q11.2)
10.1067/mpd.2002.124774 · 2002 · External reference
Referential communication abilities in children with 22q11.2 deletion syndrome
10.1080/17549507.2016.1221456 · 2017 · External reference
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
10.1016/j.gim.2022.11.006 · 2023 · External reference
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management
10.1044/2019_ajslp-16-0147 · 2019 · External reference
Impact of 22q deletion syndrome on speech outcomes following primary surgery for submucous cleft palate
10.1097/prs.0b013e3182402e52 · 2012 · External reference
Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels
10.3390/genes11090977 · 2020 · External reference
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
10.1007/s10875-022-01418-y · 2023 · External reference
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency
10.1007/s10875-017-0403-9 · 2017 · External reference
Immunological aspects of 22q11.2 deletion syndrome
10.1007/s00018-011-0842-z · 2012 · External reference
Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications
10.3390/jcm10204729 · 2021 · External reference
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
10.1067/mpd.2001.118534 · 2001 · External reference
22q11.2 deletion syndrome and congenital heart disease
10.1002/ajmg.c.31774 · 2020 · External reference
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers
10.1002/ajmg.a.38662 · 2018 · External reference
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies
10.1007/s00431-001-0877-5 · 2002 · External reference
Anatomic patterns of conotruncal defects associated with deletion 22q11
10.1097/00125817-200101000-00010 · 2001 · External reference
Chromosome 22q11 deletion in patients with truncus arteriosus
10.1007/s00246-003-0441-3 · 2003 · External reference
Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
10.1016/j.amjcard.2010.01.333 · 2010 · External reference
Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study
10.1016/j.ijcard.2005.12.029 · 2007 · External reference
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
10.1136/bmjopen-2014-005041 · 2014 · External reference
Fetal phenotype associated with the 22q11 deletion
10.1002/ajmg.a.36720 · 2014 · External reference
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
10.1002/pd.4321 · 2014 · External reference
Parathyroid function and growth in 22q11.2 deletion syndrome
10.1067/mpd.2003.156 · 2003 · External reference
The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11
10.1530/eje.1.02180 · 2006 · External reference
Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome
2005 · External reference
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
10.1038/gim.2013.71 · 2014 · External reference
Endocrine aspects of the 22q11.2 deletion syndrome
10.1097/00125817-200101000-00005 · 2001 · External reference
Endocrine manifestations in DiGeorge and other microdeletion syndromes related to 22q11.2
10.14310/horm.2002.11159 · 2005 · External reference
Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study
10.1007/s40618-023-02276-0 · 2024 · External reference
Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome
10.1111/cen.12466 · 2014 · External reference
Practical guidelines for managing adults with 22q11.2 deletion syndrome
10.1038/gim.2014.175 · 2015 · External reference
Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome
10.3389/fendo.2022.771100 · 2022 · External reference
An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome
10.1002/ajmg.a.37064 · 2015 · External reference
Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes
10.1002/lary.20281 · 2009 · External reference
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11))
10.1111/j.1365-2265.2009.03736.x · 2010 · External reference
Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study
10.3390/genes13091552 · 2022 · External reference
An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience
10.4274/jcrpe.galenos.2023.2022-11-3 · 2023 · External reference
Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome
10.1002/ajmg.a.38175 · 2017 · External reference
Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up
10.3389/fendo.2023.1209577 · 2023 · External reference
Clinical features of 78 adults with 22q11 Deletion Syndrome
10.1002/ajmg.a.30984 · 2005 · External reference
Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children
10.1002/ajmg.a.35426 · 2012 · External reference
Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome
10.4274/jcrpe.galenos.2022.2022-4-12 · 2023 · External reference
Growth charts for 22q11 deletion syndrome
10.1002/ajmg.a.35485 · 2012 · External reference
Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome
10.3988/jcn.2016.12.1.85 · 2016 · External reference
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion
10.1002/ajmg.a.30133 · 2004 · External reference
Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome
10.1002/1096-8628(20000904)94:1<77::aid-ajmg16>3.0.co;2-v · 2000 · External reference
Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms
10.1080/13554790490495519 · 2004 · External reference
Neuroradiographic findings in 22q11.2 deletion syndrome
10.1002/ajmg.a.38304 · 2017 · External reference
Neurologic challenges in 22q11.2 deletion syndrome
10.1002/ajmg.a.38614 · 2018 · External reference
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
10.1002/ajmg.a.38709 · 2018 · External reference
Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion
10.1097/00125817-200101000-00009 · 2001 · External reference
Acute Dystonia in a Patient with 22q11.2 Deletion Syndrome
2015 · External reference
Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome
10.1002/mds.28078 · 2020 · External reference
Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome
10.1044/2018_ajslp-18-0037 · 2019 · External reference
Psychopathology and cognition in children with 22q11.2 deletion syndrome
10.1192/bjp.bp.113.132324 · 2014 · External reference
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
10.1007/s10803-005-5036-9 · 2005 · External reference
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
10.1176/appi.ajp.2013.13070864 · 2014 · External reference
Developmental trajectories in 22q11.2 deletion
10.1002/ajmg.c.31435 · 2015 · External reference
ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome
10.1097/01.chi.0000205703.25453.5a · 2006 · External reference
The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms
10.1097/01.chi.0000228131.56956.c1 · 2006 · External reference
Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome
10.1097/chi.0b013e3181b76683 · 2009 · External reference
Schizophrenia and 22q11.2 deletion syndrome
10.1007/s11920-008-0026-1 · 2008 · External reference
Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group
10.1192/bjp.186.2.115 · 2005 · External reference
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease
10.1176/appi.ajp.2009.09071016 · 2010 · External reference
High rates of schizophrenia in adults with velo-cardio-facial syndrome
10.1001/archpsyc.56.10.940 · 1999 · External reference
The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome
10.1002/ajmg.a.32650 · 2009 · External reference
Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22
10.4065/73.10.956 · 1998 · External reference
Unresolved reference
2009 · External reference
Response to clozapine in a clinically identifiable subtype of schizophrenia
10.1192/bjp.bp.114.151837 · 2015 · External reference
Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report
10.9758/cpn.2020.18.3.458 · 2020 · External reference
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect
10.1111/j.1469-8749.2005.tb01083.x · 2005 · External reference
22q11 deletion syndrome and multiple complex developmental disorder: a case report
2013 · External reference
Communication disorders in the 22Q11.2 microdeletion syndrome
10.1016/s0021-9924(00)00018-6 · 2000 · External reference
Nonverbal and verbal learning: a comparative study of children and adolescents with 22q11 deletion syndrome, non-syndromal Nonverbal Learning Disorder and memory disorder
10.1080/13554794.2010.536954 · 2011 · External reference
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome
10.1002/ajmg.a.61020 · 2019 · External reference
Renal and urological tract malformations caused by a 22q11 deletion
10.1136/jmg.33.4.349 · 1996 · External reference
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
10.1097/md.0b013e3182060469 · 2011 · External reference
Genitourinary malformations in chromosome 22q11.2 deletion
10.1016/s0022-5347(05)64215-2 · 2002 · External reference
Microdeletion 22q11 and oesophageal atresia
10.1136/jmg.36.2.137 · 1999 · External reference
Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome
10.1016/s0022-3468(03)00295-1 · 2003 · External reference
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features
10.1542/peds.2008-3400 · 2009 · External reference
Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood
10.1097/mpg.0000000000003491 · 2022 · External reference
Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow
10.1067/mpd.2000.105356 · 2000 · External reference
Inflammatory Bowel Disease and Diverticulosis in an Adolescent With DiGeorge Syndrome
10.1097/mpg.0000000000000497 · 2016 · External reference
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review
10.1002/ajmg.a.38545 · 2018 · External reference
Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease
10.1111/j.1399-3038.2005.00259.x · 2005 · External reference
Chromosome 22q11.2 deletion syndrome associated with severe eczema
10.1111/j.1365-2230.2008.02940.x · 2009 · External reference
Dermatological Manifestations in Adults with 22q11.2 Deletion Syndrome: Insights and Implications
10.1016/j.jaci.2024.12.632 · 2025 · External reference
Hematological abnormalities and 22q11.2 deletion syndrome
10.5581/1516-8484.20110037 · 2011 · External reference
Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-β
10.1097/01.gim.0000056828.03164.30 · 2003 · External reference
Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction
10.1159/000102157 · 2007 · External reference
Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients
10.1160/th07-05-0350 · 2007 · External reference
Autoimmune cytopenias in the 22q11.2 deletion syndrome
10.1046/j.1365-2257.2003.00508.x · 2003 · External reference
Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome
10.1016/s0022-3476(97)80085-6 · 1997 · External reference
Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome
10.1016/j.jaip.2019.03.014 · 2019 · External reference
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias
10.1002/ajmg.a.38474 · 2018 · External reference
Risk of malignancy in 22q11.2 deletion syndrome
10.1002/ccr3.880 · 2017 · External reference
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome
10.1002/ajmg.a.31736 · 2007 · External reference
Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome
10.1007/s10897-014-9811-7 · 2015 · External reference
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome
10.1034/j.1399-0004.2002.610511.x · 2002 · External reference
SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome
2016 · External reference
Mind how you cross the gap! Outcomes for young people who failed to make the transition from child to adult services: the TRACK study
10.1192/pb.bp.115.050690 · 2016 · External reference
Young adult patients with a history of pediatric disease: impact on course of life and transition into adulthood
10.1016/j.jadohealth.2005.03.011 · 2006 · External reference
GP112 Looking before we YEEP: an evaluation of the experiences of healthcare transitions for young people with 22Q11DS
2019 · External reference
Participatory development of a patient-clinician communication tool to enhance healthcare transitions for young people with 22q11.2
10.1007/s11845-019-02104-6 · 2020 · External reference
Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome
10.1111/j.1365-2788.2011.01510.x · 2012 · External reference
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
10.1016/j.gim.2022.11.012 · 2023 · External reference
