Research & Literature

Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception.

Lin SB, Xie YJ, Chen Z, et al.

Journal of the Chinese Medical Association : JCMA 2015; (78(7)):408-13.

Chromosome 22q11.2 deletion syndrome.

Pereira E, Marion R

Pediatrics in review 2015; (36(6)):270-2; discussion 272 doi:10.1542/pir.36-6-270.

Schizophrenia Spectrum Disorders in a Danish 22q11.2 Deletion Syndrome Cohort Compared to the Total Danish Population--A Nationwide Register Study.

Vangkilde A, Olsen L, Hoeffding LK, et al.

Schizophrenia bulletin 2016; (42(3)):824-31 doi:10.1093/schbul/sbv195.

The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.

Swillen A

Current opinion in psychiatry 2016; (29(2)):133-7 doi:10.1097/YCO.0000000000000231.

22q11.2 deletion syndrome.

McDonald-McGinn DM, Sullivan KE, Marino B, et al.

Nature reviews. Disease primers 2015; (1()):15071 doi:10.1038/nrdp.2015.71.

Association between prematurity and the evolution of psychotic disorders in 22q11.2 deletion syndrome.

Midbari Kufert Y, Nachmani A, Nativ E, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2016; (123(12)):1491-1497 doi:10.1007/s00702-016-1607-5.

Predicting Cognition and Psychosis in Young Adults With 22q11.2 Deletion Syndrome.

Antshel KM, Fremont W, Ramanathan S, Kates WR

Schizophrenia bulletin 2017; (43(4)):833-842 doi:10.1093/schbul/sbw135.

Otologic and audiologic findings in 22q11.2 deletion syndrome.

Verheij E, Kist AL, Mink van der Molen AB, et al.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2017; (274(2)):765-771 doi:10.1007/s00405-016-4365-y.

Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports.

Yasuda K, Morihana E, Fusazaki N, Ishikawa S

Case reports in pediatrics 2016; (2016()):8013530 doi:10.1155/2016/8013530.

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.

Vergés L, Vidal F, Geán E, et al.

Scientific reports 2017; (7()):40031 doi:10.1038/srep40031.

Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication: A Danish Nationwide, Register-Based Study.

Hoeffding LK, Trabjerg BB, Olsen L, et al.

JAMA psychiatry 2017; (74(3)):282-290 doi:10.1001/jamapsychiatry.2016.3939.

Autism Spectrum and psychosis risk in the 22q11.2 deletion syndrome. Findings from a prospective longitudinal study.

Fiksinski AM, Breetvelt EJ, Duijff SN, et al.

Schizophrenia research 2017; (188()):59-62 doi:10.1016/j.schres.2017.01.032.

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.

Nouri N, Memarzadeh M, Salehi M, et al.

Advanced biomedical research 2016; (5()):201 doi:10.4103/2277-9175.192728.

Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome.

Suksawat Y, Sathienkijkanchai A, Veskitkul J, et al.

Journal of clinical immunology 2017; (37(4)):375-382 doi:10.1007/s10875-017-0394-6.

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.

Gur RE, Bassett AS, McDonald-McGinn DM, et al.

Molecular psychiatry 2017; (22(12)):1664-1672 doi:10.1038/mp.2017.161.

Time-based prospective memory in children and adolescents with 22q11.2 deletion syndrome.

Souchay C, Dubourg L, Ballhausen N, et al.

The Clinical neuropsychologist 2018; (32(5)):981-992 doi:10.1080/13854046.2017.1403652.

Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood.

Cabrer M, Serra G, Gogorza MS, Pereg V

Endocrinology, diabetes & metabolism case reports 2018; (2018()) doi:10.1530/EDM-17-0140.

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

Jaouadi A, Tabebi M, Abdelhedi F, et al.

Biochemical and biophysical research communications 2018; (499(3)):563-569 doi:10.1016/j.bbrc.2018.03.190.

DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients.

Kraus C, Vanicek T, Weidenauer A, et al.

Wiener klinische Wochenschrift 2018; (130(7-8)):283-287 doi:10.1007/s00508-018-1335-y.

Birth Prevalence of Chromosome 22q11.2 Deletion Syndrome: A Systematic Review of Population-Based Studies.

Panamonta V, Wichajarn K, Chaikitpinyo A, et al.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet 2016; (99 Suppl 5()):S187-93.

Neurocognitive Functioning in Patients with 22q11.2 Deletion Syndrome: A Meta-Analytic Review.

Moberg PJ, Richman MJ, Roalf DR, et al.

Behavior genetics 2018; (48(4)):259-270 doi:10.1007/s10519-018-9903-5.

Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome.

Mosheva M, Pouillard V, Fishman Y, et al.

European child & adolescent psychiatry 2019; (28(1)):31-42 doi:10.1007/s00787-018-1184-2.

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

Schindewolf E, Khalek N, Johnson MP, et al.

American journal of medical genetics. Part A 2018; (176(8)):1735-1741 doi:10.1002/ajmg.a.38665.

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures.

Hasegawa K, Tanaka H, Higuchi Y, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2018; (27(3)):159-164 doi:10.1297/cpe.27.159.

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Cohen JL, Crowley TB, McGinn DE, et al.

American journal of medical genetics. Part A 2018; (176(10)):2203-2214 doi:10.1002/ajmg.a.40494.

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Kuo CY, Signer R, Saitta SC

Current allergy and asthma reports 2018; (18(12)):75 doi:10.1007/s11882-018-0823-5.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Campbell IM, Sheppard SE, Crowley TB, et al.

American journal of medical genetics. Part A 2018; (176(10)):2058-2069 doi:10.1002/ajmg.a.40637.

Recent developments in understanding the relationship between 22q11.2 deletion syndrome and psychosis.

O'Rourke L, Murphy KC

Current opinion in psychiatry 2019; (32(2)):67-72 doi:10.1097/YCO.0000000000000466.

The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome.

Chawner SJRA, Niarchou M, Doherty JL, et al.

Journal of psychiatric research 2019; (109()):10-17 doi:10.1016/j.jpsychires.2018.11.002.

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.

Dantas AG, Santoro ML, Nunes N, et al.

Human genetics 2019; (138(1)):93-103 doi:10.1007/s00439-018-01967-6.

Prevalence of chromosomal abnormalities and 22q11.2 deletion in conotruncal and non-conotruncal antenatally diagnosed congenital heart diseases in a Chinese population.

Kong CW, Cheng YKY, To WWK, Leung TY

Hong Kong medical journal = Xianggang yi xue za zhi 2019; (25(1)):6-12 doi:10.12809/hkmj187552.

22q11.2 Deletion Syndrome-Associated Parkinson's Disease.

Boot E, Bassett AS, Marras C

Movement disorders clinical practice 2019; (6(1)):11-16 doi:10.1002/mdc3.12687.

De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay.

Keselman D, Singh R, Cohen N, Fefer Z

Child neurology open 2019; (6()):2329048X19844920 doi:10.1177/2329048X19844920.

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.

Mahé P, Nagot N, Portales P, et al.

American journal of medical genetics. Part A 2019; (179(11)):2207-2213 doi:10.1002/ajmg.a.61336.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Unolt M, Kammoun M, Nowakowska B, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(2)):326-335 doi:10.1038/s41436-019-0645-4.

Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion.

Chai H, Grommisch B, DiAdamo A, et al.

Molecular genetics & genomic medicine 2019; (7(10)):e00965 doi:10.1002/mgg3.965.

Candidate modifier genes for immune function in 22q11.2 deletion syndrome.

Pinnaro CT, Henry T, Major HJ, et al.

Molecular genetics & genomic medicine 2020; (8(1)):e1057 doi:10.1002/mgg3.1057.

Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation.

Lee A, Chang BL, Solot C, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020; (57(7)):808-818 doi:10.1177/1055665619900871.

22q11.2 deletion syndrome and congenital heart disease.

Goldmuntz E

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(1)):64-72 doi:10.1002/ajmg.c.31774.

Efficacy of Low-Dose Aripiprazole for Treatment of Psychotic Symptoms in a Patient with 22q11.2 Deletion Syndrome.

Kontoangelos K, Lazaratou E, Economou M, et al.

Psychopharmacology bulletin 2020; (50(1)):35-39 doi:10.64719/pb.4600.

22q11.2 deletion - a tiny piece leading to a big picture.

McDonald-McGinn DM

Nature reviews. Disease primers 2020; (6(1)):33 doi:10.1038/s41572-020-0169-x.

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

Ua-Areechit T, Varnado P, Tengsujaritkul M, et al.

Asian Pacific journal of allergy and immunology 2023; (41(1)):89-95 doi:10.12932/AP-241019-0671.

Characteristics of velopharyngeal dysfunction in 22q11.2 deletion syndrome: a retrospective case-control study.

Failla S, You P, Rajakumar C, et al.

Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale 2020; (49(1)):54 doi:10.1186/s40463-020-00451-4.

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.

Hickey SE, Kellogg B, O'Brien M, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020; (57(12)):1362-1369 doi:10.1177/1055665620947985.

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels.

Karbarz M

Genes 2020; (11(9)) doi:10.3390/genes11090977.

Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome.

Soares DC, Dantas AG, Matta MC, et al.

Clinical immunology (Orlando, Fla.) 2020; (220()):108590 doi:10.1016/j.clim.2020.108590.

Neuroimaging Phenotypes Associated With Risk and Resilience for Psychosis and Autism Spectrum Disorders in 22q11.2 Microdeletion Syndrome.

Jalbrzikowski M

Biological psychiatry. Cognitive neuroscience and neuroimaging 2021; (6(2)):211-224 doi:10.1016/j.bpsc.2020.08.015.

22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management.

Ozen S, Akcal O, Taskirdi I, et al.

Allergologia et immunopathologia 2021; (49(1)):95-100 doi:10.15586/aei.v49i1.24.

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult.

van der Meijs ME, Schweitzer DH, Boom H

European journal of case reports in internal medicine 2021; (8(4)):002411 doi:10.12890/2021_002411.

Analytical and clinical performance of chromosomal microarrays compared with FISH panel and conventional karyotyping in patients with chronic lymphocytic leukemia.

Tang Z, Kanagal-Shamanna R, Tang G, et al.

Leukemia research 2021; (108()):106616 doi:10.1016/j.leukres.2021.106616.

Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort.

Bevilacqua E, Jani JC, Chaoui R, et al.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021; (58(4)):597-602 doi:10.1002/uog.23699.

Longitudinal Psychiatric and Developmental Outcomes in 22q11.2 Deletion Syndrome: A Systematic Review.

Jhawar N, Brown MJ, Cutler-Landsman D, et al.

Journal of developmental and behavioral pediatrics : JDBP 2021; (42(5)):415-427 doi:10.1097/DBP.0000000000000927.

Variability in Neuropsychological Phenotypes in Patients with 22Q11.2 Deletion Syndrome: Case Series.

Wierzchowski A, Sablich-Duley S, Bordes Edgar V

Developmental neuropsychology 2021; (46(5)):381-392 doi:10.1080/87565641.2021.1956498.

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.

Blagojevic C, Heung T, Theriault M, et al.

CMAJ open 2021; (9(3)):E802-E809 doi:10.9778/cmajo.20200294.

Neuropsychological and ASD phenotypes in rare genetic syndromes: A critical review of the literature.

Bush L, Scott MN

The Clinical neuropsychologist 2022; (36(5)):993-1027 doi:10.1080/13854046.2021.1980111.

Neurological manifestation of 22q11.2 deletion syndrome.

Bayat M, Bayat A

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(3)):1695-1700 doi:10.1007/s10072-021-05825-8.

Surgical insights and management in patients with the 22q11.2 deletion syndrome.

McGovern PE, Crowley TB, Zackai EH, et al.

Pediatric surgery international 2022; (38(6)):899-905 doi:10.1007/s00383-022-05123-0.

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome.

Lin HY, Tsai WY, Tung YC, et al.

Frontiers in endocrinology 2022; (13()):771100 doi:10.3389/fendo.2022.771100.

Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 22q11.2DS: A Cross-Sectional Study.

Kollara L, Perry JL, Kirschner RE, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023; (60(10)):1250-1259 doi:10.1177/10556656221100674.

Contribution of schizophrenia polygenic burden to longitudinal phenotypic variance in 22q11.2 deletion syndrome.

Alver M, Mancini V, Läll K, et al.

Molecular psychiatry 2022; (27(10)):4191-4200 doi:10.1038/s41380-022-01674-9.

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.

Pastor S, Tran O, McGinn DE, et al.

Genes 2022; (13(9)) doi:10.3390/genes13091668.

Aortic Arch Laterality in Chromosome 22q11.2 Deletion Syndrome: Male-Female Difference.

Evans WN, Acherman RJ, Restrepo H

Clinical pediatrics 2023; (62(4)):345-348 doi:10.1177/00099228221127730.

Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome.

Heung T, Conroy B, Malecki S, et al.

Genes 2022; (13(11)) doi:10.3390/genes13112038.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

Óskarsdóttir S, Boot E, Crowley TB, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(3)):100338 doi:10.1016/j.gim.2022.11.006.

Adaptive living skills, sleep problems, and mental health disorders in adults with 22q11.21 deletion syndrome.

Leader G, Curtin A, Shprintzen RJ, et al.

Research in developmental disabilities 2023; (136()):104491 doi:10.1016/j.ridd.2023.104491.

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.

Szczawińska-Popłonyk A, Schwartzmann E, Chmara Z, et al.

International journal of molecular sciences 2023; (24(9)) doi:10.3390/ijms24098317.

Comparative Study of Pharyngeal Flap Outcomes between Children with 22q11.2 Deletion Syndrome and Nonsyndromic Cleft Lip and Palate.

Wang AT, Hseu AF, Staffa SJ, et al.

Plastic and reconstructive surgery 2024; (154(1)):151-160 doi:10.1097/PRS.0000000000010854.

Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2.

von Scheibler ENMM, Widdershoven JCC, van Barneveld DCPBM, et al.

American journal of medical genetics. Part A 2024; (194(3)):e63456 doi:10.1002/ajmg.a.63456.

22q11.2 Deletion Syndrome Diagnosed 47 Years After Surgery for Tetralogy of Fallot.

Harada Y, Kanazawa Y, Tobaru T, et al.

Cureus 2023; (15(11)):e48206 doi:10.7759/cureus.48206.

The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review.

Tanham M, Chen R, Warren N, et al.

The Australian and New Zealand journal of psychiatry 2024; (58(5)):393-403 doi:10.1177/00048674241233118.

Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review.

Jafar B, Alemayehu H, Bhat R, Zayek M

Journal of pediatric genetics 2024; (13(3)):237-244 doi:10.1055/s-0042-1750748.

Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion.

Jaspers Faijer-Westerink H, von Scheibler ENMM, van Rossum EFC, et al.

International journal of obesity (2005) 2025; (49(4)):642-648 doi:10.1038/s41366-024-01685-2.

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

MacIsaac MF, Mattia A, Montes LA, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2025; 10556656251331392 doi:10.1177/10556656251331392.

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Süleyman M, Cagdas D, Kiper PÖŞ, et al.

Journal of clinical immunology 2025; (45(1)):103 doi:10.1007/s10875-025-01884-0.

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

Porubsky D, Yoo D, Dishuck PC, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.07.04.662981.

Understanding obesity in children with 22q11.2 deletion syndrome.

Sarli WM, Cerutti M, Pontone M, et al.

Frontiers in endocrinology 2025; (16()):1628796 doi:10.3389/fendo.2025.1628796.

Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms.

Pastor S, Tran O, Lapointe R, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2026; (28(1)):101614 doi:10.1016/j.gim.2025.101614.

The 22q11.2 deletion syndrome: Genetic mechanisms, clinical manifestations, and therapeutic strategies.

Yang S, Zhuang Y, Xin S, et al.

Clinica chimica acta; international journal of clinical chemistry 2026; (586()):120893 doi:10.1016/j.cca.2026.120893.