17q11 deletion syndrome

Overview

Diagnosis

Management

Special Populations

Key Recommendations

References

Showing 100 most recent of 312 indexed papers.

1 Hack S, Madgar O. Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort. 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 2026. link 2 Sylvester AL, Spapens JC, Soons N, Kappert S, Janssen P, Ivanov D et al.. Efficacy of glutamate-GABA modulator riluzole for the treatment of cognitive and psychotic symptoms in 22q11.2 deletion syndrome: A placebo-controlled crossover trial. Psychiatry research 2026. link 3 Hollywood A, Tummon O, McAleer MA, Kelleher S, Irvine AD. Telangiectasia in the Distribution of the Superior Vena Cava: A Novel Dermatological Manifestation of 22q11.2 Deletion Syndrome. Pediatric dermatology 2026. link 4 Pastor S, Tran O, Lapointe R, Olali AZ, Wallace DC, Morrow B et al.. Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms. Genetics in medicine : official journal of the American College of Medical Genetics 2026. link 5 Yang S, Zhuang Y, Xin S, He Y, Fu X. The 22q11.2 deletion syndrome: Genetic mechanisms, clinical manifestations, and therapeutic strategies. Clinica chimica acta; international journal of clinical chemistry 2026. link 6 Beebe JL, Martin CR, Sanders AFP, Guidry J, Faheem F, Atallah J et al.. Short communication: catechol-O-methyltransferase allelic variation in relation to psychological and hormonal indices of stress in children and adolescents with chromosome 22q11.2 deletion syndrome (22q11.2DS). Journal of applied genetics 2025. link 7 Accinni T, Frascarelli M, Cordellieri P, Kotzalidis GD, Fanella M, Di Bonaventura C et al.. Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia. Journal of intellectual disability research : JIDR 2025. link 8 Caterino M, Paris D, Torromino G, Costanzo M, Flore G, Tramice A et al.. Brain and behavioural anomalies caused by . Life science alliance 2025. link 9 Bergman HJ, Asti L, Kirschner RE. An Assessment of Adverse Events in Patients with 22q11.2 Deletion Syndrome Undergoing Palatoplasty: An Analysis of the NSQIP Pediatric Database. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2025. link 10 Williams JL, Perry JL, Singh DJ, Sitzman TJ. Do Palatoplasty Procedures Resolve Hypernasality as Effectively as Pharyngoplasty Procedures in Patients with 22q11.2 Deletion Syndrome?. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2025. link 11 Stanek K, Wang AT, Hseu AF, Clark RE, Meara JG, Nuss RC et al.. Multidisciplinary Velopharyngeal Dysfunction Evaluation Helps Detect Non-classic Cases of 22q11.2 Deletion. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2025. link 12 Cong X, Hu L, Pei Y, Zhong J, Song J, Wen L et al.. Evaluating the effectiveness of routine noninvasive prenatal screening for CNVs in 22q11.2 region in a cohort of 38,495 pregnancies. Scientific reports 2025. link 13 Jaspers Faijer-Westerink H, von Scheibler ENMM, van Rossum EFC, van Haelst MM, Vingerhoets C, van Amelsvoort TAMJ et al.. Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion. International journal of obesity (2005) 2025. link 14 Arganbright J, Crowley TB, Tracy M, Noel-MacDonnell J, Gaiser K, Yaktine L et al.. Hearing Loss in Children with 22q11.2 Deletion Syndrome. The Laryngoscope 2025. link 15 Selten I, Blok J, Boerma T, Djelantik AAAMJ, Houben M, Wijnen F et al.. A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome. Journal of intellectual disability research : JIDR 2025. link 16 Wahrmann S, Kainulainen L, Lempainen J, Kytö V. Finnish nationwide controlled register study found increased inpatient infections in children with 22q11.2 deletion syndrome. Acta paediatrica (Oslo, Norway : 1992) 2025. link 17 Souders MC, McDonald-McGinn DM, Ruparel K, Moore TM, Tang SX, Calkins ME et al.. Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome. Psychiatry research 2025. link 18 Caples M, McCarthy B, Savage E. Hardiness as a Resilience Factor for Adaptation in Families of Children With 22q11.2 Deletion Syndrome: A Mixed Methods Study of Parents' Perspectives. Journal of intellectual disabilities : JOID 2024. link 19 Duckett KA, Poupore NS, Carroll WW, Pecha PP. Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery. The Laryngoscope 2024. link 20 Blankenship K, Chieffo S, Morris E, Slomp C, Batallones R, Prijoles E et al.. Development and evaluation of an educational resource for parents of children with 22q11.2 deletion syndrome about the psychiatric manifestations of the condition. Journal of genetic counseling 2024. link 21 Ingram DG, Tracy M, Noel-MacDonnell J, Ghulmiyyah JM, Arganbright JM. Polysomnographic findings in children with 22q deletion & duplication syndrome: relationship to genetic diagnosis, parent-reported symptoms, and calcium levels. Sleep & breathing = Schlaf & Atmung 2024. link 22 Schleifer CH, O'Hora KP, Jalbrzikowski M, Bondy E, Kushan-Wells L, Lin A et al.. Longitudinal Development of Thalamocortical Functional Connectivity in 22q11.2 Deletion Syndrome. Biological psychiatry. Cognitive neuroscience and neuroimaging 2024. link 23 Ghanem AM, Borg TM, Youssef G, Ridout D, Gilleard O, Birch M et al.. Surgical Management of Submucous Cleft Palate by Radical Muscle Dissection Veloplasty: Speech Outcomes in Patients with 22q11.2 Deletion Syndrome. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2024. link 24 Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J et al.. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. American journal of obstetrics and gynecology 2024. link 25 Berardelli I, Cifrodelli M, Giuliani C, Antonelli G, Putotto C, Pulvirenti F et al.. Efficacy and safety of clozapine in treatment-resistant psychotic patients with DiGeorge syndrome (22q11.2 deletion syndrome): a case series. International clinical psychopharmacology 2024. link 26 von Scheibler ENMM, Widdershoven JCC, van Barneveld DCPBM, Schröder N, van Eeghen AM, van Amelsvoort TAMJ et al.. Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2. American journal of medical genetics. Part A 2024. link 27 Pugnaloni F, Onesimo R, Blandino R, Putotto C, Versacci P, Delogu AB et al.. Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review. Genes 2023. link 28 Lasprilla-Tovar J, Zuluaga NA, Forero C, Correa-Jiménez O, Sierra JM. Endocrine Abnormalities and Growth Characterization in Colombian Pediatric Patients with 22q11 Deletion Syndrome. Journal of clinical research in pediatric endocrinology 2023. link 29 Franco E, Iqbal N, Shah PR, Alabek M, Tripi KS, Prescott C et al.. Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series. Cornea 2023. link 30 Pereira VJ, So JYT, Tsang JMK, Choi WS, Tong MCF, Lee KYS. Speech Telepractice and Treatment Intensity in a Cantonese-Speaking Case with 22q11.2 Deletion Syndrome Following Late Diagnosis and Management of Velopharyngeal Dysfunction. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023. link 31 Evans WN, Acherman RJ, Restrepo H. Aortic Arch Laterality in Chromosome 22q11.2 Deletion Syndrome: Male-Female Difference. Clinical pediatrics 2023. link 32 Schmitt JE, DeBevits JJ, Roalf DR, Ruparel K, Gallagher RS, Gur RC et al.. A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome. Biological psychiatry. Cognitive neuroscience and neuroimaging 2023. link 33 Serur Y, Sher-Censor E, Sofrin-Frumer D, Daon K, Sobol-Havia D, Weinberger R et al.. Parental Expressed Emotion, Parenting Stress, and Behavioral Problems of Young Children with 22q11.2 Deletion Syndrome and Idiopathic Autism Spectrum Disorder. Child psychiatry and human development 2023. link 34 Sanders AFP, Hobbs DA, Knaus TA, Beaton EA. Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome. Journal of autism and developmental disorders 2023. link 35 O'Donoghue E, McAllister M, Rizzo R. The experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland. Journal of genetic counseling 2023. link 36 Pasternak M, Shirzadi Z, Mutsaerts HJMM, Boot E, Butcher NJ, MacIntosh BJ et al.. Elevated regional cerebral blood flow in adults with 22q11.2 deletion syndrome. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2023. link 37 Kollara L, Perry JL, Kirschner RE, Fang X, Baylis AL. Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 22q11.2DS: A Cross-Sectional Study. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023. link 38 Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N et al.. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. American journal of medical genetics. Part A 2023. link 39 Latrèche C, Maeder J, Mancini V, Bortolin K, Schneider M, Eliez S. Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis. Psychological medicine 2023. link 40 Provenzani U, Damiani S, Bersano I, Singh S, Moschillo A, Accinni T et al.. Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis. International review of psychiatry (Abingdon, England) 2022. link 41 Meneses Z, Durant J, Ale H. The Unique Experience of a New Multidisciplinary Program for 22q Deletion and Duplication Syndromes in a Community Hospital in Florida: A Reaffirmation That Multidisciplinary Care Is Essential for Best Outcomes in These Patients. Genes 2022. link 42 Curtin A, Mannion A, Shprintzen RJ, Whelan S, Coyne R, Leader G. An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective. American journal of medical genetics. Part A 2022. link 43 Fiksinski AM, Bearden CE, Bassett AS, Kahn RS, Zinkstok JR, Hooper SR et al.. A normative chart for cognitive development in a genetically selected population. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2022. link 44 Maeder J, Zuber S, Schneider M, Kliegel M, Eliez S. Age-Related Improvements in Executive Functions and Focal Attention in 22q11.2 Deletion Syndrome Vary Across Domain and Task. Journal of the International Neuropsychological Society : JINS 2022. link 45 Campbell LE, Swaab L, Freeman EE, McCormack L, Simon TJ, Angkustsiri K et al.. The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome. Journal of autism and developmental disorders 2022. link 46 Van de Woestyne K, Vandensande A, Vansteelandt K, Maes B, Vergaelen E, Swillen A. Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient's perspective. European child & adolescent psychiatry 2022. link 47 Smetanova J, Milota T, Rataj M, Bloomfield M, Sediva A, Klocperk A. Accelerated Maturation, Exhaustion, and Senescence of T cells in 22q11.2 Deletion Syndrome. Journal of clinical immunology 2022. link 48 von Scheibler ENMM, van der Valk Bouman ES, Nuijts MA, Bauer NJC, Berendschot TTJM, Vermeltfoort P et al.. Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study. American journal of medical genetics. Part A 2022. link 49 Cornblath EJ, Mahadevan A, He X, Ruparel K, Lydon-Staley DM, Moore TM et al.. Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing. Molecular psychiatry 2022. link 50 Palmer LD, Heung T, Corral M, Boot E, Brooks SG, Bassett AS. Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition. Journal of applied research in intellectual disabilities : JARID 2022. link 51 Busch L, Saini V, Karim S, Jones R. Evaluation and Maintenance of Behavioral Interventions for 22q11.2 Deletion Syndrome. Developmental neurorehabilitation 2022. link 52 Buijs PC, Bassett AS, Gold DA, Boot E. Cognitive behavioral therapy in 22q11.2 deletion syndrome: A case study of two young adults with an anxiety disorder. Journal of intellectual disabilities : JOID 2021. link 53 Butensky A, de Rinaldis CP, Patel S, Edman S, Bailey A, McGinn DE et al.. Cardiac evaluation of patients with 22q11.2 duplication syndrome. American journal of medical genetics. Part A 2021. link 54 Patel KR, Partain M, Ryan DP, Hersh C, Goldenberg P, Hartnick CJ. Carotid artery mobilization prior to pharyngeal flap inset for patients with 22q11.2 deletion syndrome. International journal of pediatric otorhinolaryngology 2021. link 55 Ferreira SI, Cinnirella G, Ramos L, Suppa A, Pires LM, Nardone AM et al.. Tremor is a major feature of 9p13 deletion syndrome. American journal of medical genetics. Part A 2020. link 56 Malecki SL, Van Mil S, Graffi J, Breetvelt E, Corral M, Boot E et al.. A genetic model for multimorbidity in young adults. Genetics in medicine : official journal of the American College of Medical Genetics 2020. link 57 Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS et al.. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. Genetics in medicine : official journal of the American College of Medical Genetics 2020. link 58 Moulding HA, Bartsch U, Hall J, Jones MW, Linden DE, Owen MJ et al.. Sleep problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS). Psychological medicine 2020. link 59 Wong NS, Feng Z, Rappazzo C, Turk C, Randall C, Ongkasuwan J. Patterns of Dysphagia and Airway Protection in Infants with 22q11.2-Deletion Syndrome. The Laryngoscope 2020. link 60 Haenssler AE, Baylis A, Perry JL, Kollara L, Fang X, Kirschner R. Impact of Cranial Base Abnormalities on Cerebellar Volume and the Velopharynx in 22q11.2 Deletion Syndrome. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020. link 61 Mosheva M, Korotkin L, Gur RE, Weizman A, Gothelf D. Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review. European child & adolescent psychiatry 2020. link 62 Maeder J, Sandini C, Zöller D, Schneider M, Bostelmann M, Pouillard V et al.. Long-term verbal memory deficit and associated hippocampal alterations in 22q11.2 deletion syndrome. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2020. link 63 Peyroux E, Babinet MN, Cannarsa C, Madelaine C, Favre E, Demily C et al.. What do error patterns in processing facial expressions, social interaction scenes and vocal prosody tell us about the way social cognition works in children with 22q11.2DS?. European child & adolescent psychiatry 2020. link 64 Villalón-Reina JE, Martínez K, Qu X, Ching CRK, Nir TM, Kothapalli D et al.. Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study. Molecular psychiatry 2020. link 65 Sun D, Ching CRK, Lin A, Forsyth JK, Kushan L, Vajdi A et al.. Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. Molecular psychiatry 2020. link 66 Kerin L, Lynch D, McNicholas F. Participatory development of a patient-clinician communication tool to enhance healthcare transitions for young people with 22q11.2. Irish journal of medical science 2020. link 67 Yirmiya ET, Mekori-Domachevsky E, Weinberger R, Taler M, Carmel M, Gothelf D. Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome. American journal of medical genetics. Part A 2020. link 68 Sandini C, Chambaz M, Schneider M, Armando M, Zöller D, Schaer M et al.. Pituitary dysmaturation affects psychopathology and neurodevelopment in 22q11.2 Deletion Syndrome. Psychoneuroendocrinology 2020. link 69 Fanella M, Frascarelli M, Lambiase C, Morano A, Unolt M, Liberati N et al.. Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome. Journal of medical genetics 2020. link 70 van Duin EDA, Ceccarini J, Booij J, Kasanova Z, Vingerhoets C, van Huijstee J et al.. Lower . Psychological medicine 2020. [link 71 Perry JL, Kotlarek KJ, Spoloric K, Baylis A, Kollara L, Grischkan JM et al.. Differences in the Tensor Veli Palatini Muscle and Hearing Status in Children With and Without 22q11.2 Deletion Syndrome. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020. link 72 Vittas S, Efstathiou G, Tsakalidis C, Malamaki C, Antari V, Chatzitoliou E et al.. De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome. Cytogenetic and genome research 2019. link 73 Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin JC, Patrier S. Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2019. link 74 Schleifer C, Lin A, Kushan L, Ji JL, Yang G, Bearden CE et al.. Dissociable Disruptions in Thalamic and Hippocampal Resting-State Functional Connectivity in Youth with 22q11.2 Deletions. The Journal of neuroscience : the official journal of the Society for Neuroscience 2019. link 75 Jackson OA, Paine K, Magee L, Maguire MA, Zackai E, McDonald-McGinn DM et al.. Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns. International journal of pediatric otorhinolaryngology 2019. link 76 Kates WR, Mariano MA, Antshel KM, Chandra S, Gamble H, Giordano M et al.. Trajectories of psychiatric diagnoses and medication usage in youth with 22q11.2 deletion syndrome: a 9-year longitudinal study. Psychological medicine 2019. link 77 Larsen KM, Dzafic I, Siebner HR, Garrido MI. Alteration of functional brain architecture in 22q11.2 deletion syndrome - Insights into susceptibility for psychosis. NeuroImage 2019. link 78 Niarchou M, Chawner SJRA, Fiksinski A, Vorstman JAS, Maeder J, Schneider M et al.. Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome. Schizophrenia research 2019. link 79 Peyroux E, Rigard C, Saucourt G, Poisson A, Plasse J, Franck N et al.. Subthreshold social cognitive deficits may be a key to distinguish 22q11.2DS from schizophrenia. Early intervention in psychiatry 2019. link 80 Schneider M, Armando M, Schultze-Lutter F, Pontillo M, Vicari S, Debbané M et al.. Prevalence, course and psychosis-predictive value of negative symptoms in 22q11.2 deletion syndrome. Schizophrenia research 2019. link 81 Chawner SJRA, Niarchou M, Doherty JL, Moss H, Owen MJ, van den Bree MBM. The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome. Journal of psychiatric research 2019. link 82 Van Batavia JP, Crowley TB, Burrows E, Zackai EH, Sanna-Cherchi S, McDonald-McGinn DM et al.. Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome. American journal of medical genetics. Part A 2019. link 83 Aresvik DM, Øverland T, Lima K, Pettersen RD, Abrahamsen TG. Lymphocyte Apoptosis and FAS Expression in Patients with 22q11.2 Deletion Syndrome. Journal of clinical immunology 2019. link 84 Pitzianti M, Pontillo M, Vicari S, Armando M, Pasini A. 22q11 microdeletion syndrome and ultra-high risk for psychosis: The role of neurological soft signs as an independent marker of vulnerability for psychosis. Early intervention in psychiatry 2019. link 85 Souchay C, Dubourg L, Ballhausen N, Schneider M, Cerf C, Schnitzspahn K et al.. Time-based prospective memory in children and adolescents with 22q11.2 deletion syndrome. The Clinical neuropsychologist 2018. link 86 Verheij E, Speleman L, Mink van der Molen AB, Thomeer HGXM. Congenital respiratory tract disorders in 22q11.2 deletion syndrome. International journal of pediatric otorhinolaryngology 2018. link 87 Filip C, Impieri D, Aagenæs I, Breugem C, Høgevold HE, Særvold T et al.. Adults with 22q11.2 deletion syndrome have a different velopharyngeal anatomy with predisposition to velopharyngeal insufficiency. Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2018. link 88 Joyce P, O'Rourke C, McDermott B, Heussler H. Health-related quality of life in 22q11.2 deletion syndrome: The child's perspective. Journal of paediatrics and child health 2018. link 89 de Sonneville LMJ, Hidding E, van Engeland H, Vorstman JAS, Sijmens-Morcus MEJ, Swaab H. [Formula: see text]Executive functioning and its relation to ASD and ADHD symptomatology in 22q11.2 deletion syndrome. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2018. link 90 Lambert MP, Arulselvan A, Schott A, Markham SJ, Crowley TB, Zackai EH et al.. The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias. American journal of medical genetics. Part A 2018. link 91 Homans JF, Tromp IN, Colo D, Schlösser TPC, Kruyt MC, Deeney VFX et al.. Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review. American journal of medical genetics. Part A 2018. link 92 Eguchi M, Ozaki E, Yamauchi T, Ohta M, Higaki T, Masuda K et al.. Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. American journal of medical genetics. Part A 2018. link 93 Bertrán M, Tagle FP, Irarrázaval M. Psychiatric manifestations of 22q11.2 deletion syndrome: a literature review. Neurologia 2018. link 94 Jensen M, Kooy RF, Simon TJ, Reyniers E, Girirajan S, Tassone F. A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. European journal of medical genetics 2018. link 95 Mosheva M, Eyal S, Weisman O, Gilad R, Fishman Y, Weinberger R et al.. Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome. American journal of medical genetics. Part A 2018. link 96 Aggarwal V, Imamura M, Acuna C, Cabrera AG. Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries. Cardiology in the young 2018. link 97 Mariano MA, Tang K, Kurtz M, Kates WR. Examining the durability of a hybrid, remote and computer-based cognitive remediation intervention for adolescents with 22q11.2 deletion syndrome. Early intervention in psychiatry 2018. link 98 Biria M, Tomescu MI, Custo A, Cantonas LM, Song KW, Schneider M et al.. Visual processing deficits in 22q11.2 Deletion Syndrome. NeuroImage. Clinical 2018. link 99 Zöller D, Padula MC, Sandini C, Schneider M, Scariati E, Van De Ville D et al.. Psychotic symptoms influence the development of anterior cingulate BOLD variability in 22q11.2 deletion syndrome. Schizophrenia research 2018. link 100 Van Den Heuvel E, ReuterskiöLd C, Solot C, Manders E, Swillen A, Zink I. Referential communication abilities in children with 22q11.2 deletion syndrome. International journal of speech-language pathology 2017. link