{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T19:36:52Z","timestamp":1790019412331,"version":"4.0.1"},"reference-count":24,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,10,5]],"date-time":"2022-10-05T00:00:00Z","timestamp":1664928000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"United States National Institute of Health","doi-asserted-by":"publisher","award":["MH191719"],"award-info":[{"award-number":["MH191719"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"United States National Institute of Health","doi-asserted-by":"publisher","award":["MH119737-02"],"award-info":[{"award-number":["MH119737-02"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"United States National Institute of Health","doi-asserted-by":"publisher","award":["HD070454"],"award-info":[{"award-number":["HD070454"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"United States National Institute of Health","doi-asserted-by":"publisher","award":["MH087636-01A1"],"award-info":[{"award-number":["MH087636-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"United States National Institute of Health","doi-asserted-by":"publisher","award":["GM125757"],"award-info":[{"award-number":["GM125757"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"United States National Institute of Health","doi-asserted-by":"publisher","award":["PJT-169161"],"award-info":[{"award-number":["PJT-169161"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"United States National Institute of Health","doi-asserted-by":"publisher","award":["PJT-148924"],"award-info":[{"award-number":["PJT-148924"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"United States National Institute of Health","doi-asserted-by":"publisher","award":["1U01MH101722-01"],"award-info":[{"award-number":["1U01MH101722-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MH191719"],"award-info":[{"award-number":["MH191719"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MH119737-02"],"award-info":[{"award-number":["MH119737-02"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["HD070454"],"award-info":[{"award-number":["HD070454"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MH087636-01A1"],"award-info":[{"award-number":["MH087636-01A1"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["GM125757"],"award-info":[{"award-number":["GM125757"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-169161"],"award-info":[{"award-number":["PJT-169161"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-148924"],"award-info":[{"award-number":["PJT-148924"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["1U01MH101722-01"],"award-info":[{"award-number":["1U01MH101722-01"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["MH191719"],"award-info":[{"award-number":["MH191719"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["MH119737-02"],"award-info":[{"award-number":["MH119737-02"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["HD070454"],"award-info":[{"award-number":["HD070454"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["MH087636-01A1"],"award-info":[{"award-number":["MH087636-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["GM125757"],"award-info":[{"award-number":["GM125757"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["PJT-169161"],"award-info":[{"award-number":["PJT-169161"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["PJT-148924"],"award-info":[{"award-number":["PJT-148924"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["1U01MH101722-01"],"award-info":[{"award-number":["1U01MH101722-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Charles E.H. Upham Chair (BSE)","award":["MH191719"],"award-info":[{"award-number":["MH191719"]}]},{"name":"Charles E.H. Upham Chair (BSE)","award":["MH119737-02"],"award-info":[{"award-number":["MH119737-02"]}]},{"name":"Charles E.H. Upham Chair (BSE)","award":["HD070454"],"award-info":[{"award-number":["HD070454"]}]},{"name":"Charles E.H. Upham Chair (BSE)","award":["MH087636-01A1"],"award-info":[{"award-number":["MH087636-01A1"]}]},{"name":"Charles E.H. Upham Chair (BSE)","award":["GM125757"],"award-info":[{"award-number":["GM125757"]}]},{"name":"Charles E.H. Upham Chair (BSE)","award":["PJT-169161"],"award-info":[{"award-number":["PJT-169161"]}]},{"name":"Charles E.H. Upham Chair (BSE)","award":["PJT-148924"],"award-info":[{"award-number":["PJT-148924"]}]},{"name":"Charles E.H. Upham Chair (BSE)","award":["1U01MH101722-01"],"award-info":[{"award-number":["1U01MH101722-01"]}]},{"name":"Marguerite-Marie Delacroix fund","award":["MH191719"],"award-info":[{"award-number":["MH191719"]}]},{"name":"Marguerite-Marie Delacroix fund","award":["MH119737-02"],"award-info":[{"award-number":["MH119737-02"]}]},{"name":"Marguerite-Marie Delacroix fund","award":["HD070454"],"award-info":[{"award-number":["HD070454"]}]},{"name":"Marguerite-Marie Delacroix fund","award":["MH087636-01A1"],"award-info":[{"award-number":["MH087636-01A1"]}]},{"name":"Marguerite-Marie Delacroix fund","award":["GM125757"],"award-info":[{"award-number":["GM125757"]}]},{"name":"Marguerite-Marie Delacroix fund","award":["PJT-169161"],"award-info":[{"award-number":["PJT-169161"]}]},{"name":"Marguerite-Marie Delacroix fund","award":["PJT-148924"],"award-info":[{"award-number":["PJT-148924"]}]},{"name":"Marguerite-Marie Delacroix fund","award":["1U01MH101722-01"],"award-info":[{"award-number":["1U01MH101722-01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Learning and intellectual disabilities are hallmark features of 22q11.2 deletion syndrome. Data are limited, however, regarding influences on full-scale IQ (FSIQ). Here, we investigated possible 22q11.2 deletion parent-of-origin effects. In 535 individuals, we compared FSIQ (\u226550), 481 with de novo and 54 with inherited 22q11.2 deletions. In the subsets with data available, we examined parent-of-origin effects on FSIQ. We used linear regression models to account for covariates. Median FSIQ was significantly higher in de novo vs. inherited deletions (77; range 50\u2013116 vs. 67; range 50\u201396, p &lt; 0.0001). Results remained significant using a regression model accounting for age at IQ testing, sex and cohort site. No significant parent-of-origin differences in FSIQ were observed for de novo deletions (n = 81, 63.0% maternal; p = 0.6882). However, median FSIQ was significantly lower in maternally than in paternally inherited familial deletions (65, range 50\u201386 vs. 71.5, range 58\u201396, respectively, p = 0.0350), with the regression model indicating an ~8 point decrement in FSIQ for this variable (p = 0.0061). FSIQ is higher on average in de novo than in inherited 22q11.2 deletions, regardless of parental origin. However, parent-of-origin appears relevant in inherited deletions. The results have potential clinical implications with further research needed to delineate possible actionable mechanisms.<\/jats:p>","DOI":"10.3390\/genes13101800","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T20:43:21Z","timestamp":1665261801000},"page":"1800","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome"],"prefix":"10.3390","volume":"13","author":[{"given":"Daniel E.","family":"McGinn","sequence":"first","affiliation":[{"name":"The 22q and You Center, Clinical Genetics Center, Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3272-5458","authenticated-orcid":false,"given":"T. Blaine","family":"Crowley","sequence":"additional","affiliation":[{"name":"The 22q and You Center, Clinical Genetics Center, Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Heung","sequence":"additional","affiliation":[{"name":"Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON M5G 2C4, Canada"},{"name":"The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oanh","family":"Tran","sequence":"additional","affiliation":[{"name":"The 22q and You Center, Clinical Genetics Center, Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5722-6356","authenticated-orcid":false,"given":"Edward","family":"Moss","sequence":"additional","affiliation":[{"name":"The 22q and You Center, Clinical Genetics Center, Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"The 22q and You Center, Clinical Genetics Center, Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[{"name":"The 22q and You Center, Clinical Genetics Center, Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5734-9778","authenticated-orcid":false,"given":"Eva W. C.","family":"Chow","sequence":"additional","affiliation":[{"name":"Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON M5G 2C4, Canada"},{"name":"Department of Psychiatry, University of Toronto, Toronto, ON M5G 2C4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernice E.","family":"Morrow","sequence":"additional","affiliation":[{"name":"Albert Einstein College of Medicine, Bronx, NY 10461, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4258-4537","authenticated-orcid":false,"given":"Ann","family":"Swillen","sequence":"additional","affiliation":[{"name":"The Centre for Human Genetics, University Hospital of Leuven, Department of Human Genetics, University of Leuven (KU Leuven), 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0681-7279","authenticated-orcid":false,"given":"Anne S.","family":"Bassett","sequence":"additional","affiliation":[{"name":"Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON M5G 2C4, Canada"},{"name":"The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada"},{"name":"Department of Psychiatry, University of Toronto, Toronto, ON M5G 2C4, Canada"},{"name":"Toronto General Hospital Research Institute, and Campbell Family Mental Health Research Institute, Toronto, ON M5G 2C4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4077-250X","authenticated-orcid":false,"given":"Donna M.","family":"McDonald-McGinn","sequence":"additional","affiliation":[{"name":"The 22q and You Center, Clinical Genetics Center, Division of Human Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"E802","DOI":"10.9778\/cmajo.20200294","article-title":"Estimate of the Contemporary Live-Birth Prevalence of Recurrent 22q11.2 Deletions: A Cross-Sectional Analysis from Population-Based Newborn Screening","volume":"9","author":"Blagojevic","year":"2021","journal-title":"CMAJ Open"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1002\/pd.4613","article-title":"Prevalence of Recurrent Pathogenic Microdeletions and Microduplications in over 9500 Pregnancies","volume":"35","author":"Grati","year":"2015","journal-title":"Prenat Diagn"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 Deletion Syndrome","volume":"1","author":"Sullivan","year":"2015","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2058","DOI":"10.1002\/ajmg.a.40637","article-title":"What Is New with 22q? An Update from the 22q and You Center at the Children\u2019s Hospital of Philadelphia","volume":"176","author":"Campbell","year":"2018","journal-title":"Am. J. Med. Genet A"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/00125817-200101000-00006","article-title":"Phenotype of the 22q11.2 Deletion in Individuals Identified through an Affected Relative: Cast a Wide FISHing Net!","volume":"3","author":"Tonnesen","year":"2001","journal-title":"Genet Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","article-title":"The 22q11 Deletion Syndromes","volume":"9","author":"Scambler","year":"2000","journal-title":"Hum. Mol. Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1007\/s10875-017-0403-9","article-title":"Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency","volume":"37","author":"Barry","year":"2017","journal-title":"J. Clin. Immunol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.jpeds.2011.02.039","article-title":"Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome","volume":"159","author":"Bassett","year":"2011","journal-title":"J. Pediatr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1002\/ajmg.a.38645","article-title":"Elucidating the Diagnostic Odyssey of 22q11.2 Deletion Syndrome","volume":"176","author":"Palmer","year":"2018","journal-title":"Am. J. Med. Genet A"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1111\/j.1365-2788.2007.00955.x","article-title":"Intellectual Abilities in a Large Sample of Children with Velo-Cardio-Facial Syndrome: An Update","volume":"51","author":"Devriendt","year":"2007","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.34.6.453","article-title":"Intelligence and Psychosocial Adjustment in Velocardiofacial Syndrome: A Study of 37 Children and Adolescents with VCFS","volume":"34","author":"Swillen","year":"1997","journal-title":"J. Med. Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/ajmg.c.31435","article-title":"Developmental Trajectories in 22q11.2 Deletion","volume":"169","author":"Swillen","year":"2015","journal-title":"Am. J. Med. Genet C Semin Med. Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2172","DOI":"10.1002\/ajmg.a.40359","article-title":"Variance of IQ Is Partially Dependent on Deletion Type among 1427 22q11.2 Deletion Syndrome Subjects","volume":"176","author":"Zhao","year":"2018","journal-title":"Am. J. Med. Genet A"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/ajmg.b.20144","article-title":"Genetic, Developmental, and Physical Factors Associated with Attention Deficit Hyperactivity Disorder in Patients with Velocardiofacial Syndrome","volume":"126B","author":"Gothelf","year":"2004","journal-title":"Am. J. Med. Genet B Neuropsychiatr. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1002\/ajmg.a.40535","article-title":"The Impact of Hypocalcemia on Full Scale IQ in Patients with 22q11.2 Deletion Syndrome","volume":"176","author":"Grand","year":"2018","journal-title":"Am. J. Med. Genet A"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.b.32215","article-title":"Contribution of Congenital Heart Disease to Neuropsychiatric Outcome in School-Age Children with 22q11.2 Deletion Syndrome","volume":"165B","author":"Yi","year":"2014","journal-title":"Am. J. Med. Genet B Neuropsychiatr. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1093\/hmg\/ddn307","article-title":"Copy Number Variations and Risk for Schizophrenia in 22q11.2 Deletion Syndrome","volume":"17","author":"Bassett","year":"2008","journal-title":"Hum. Mol. Genet"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Fiksinski, A.M., Heung, T., Corral, M., Breetvelt, E.J., Costain, G., Marshall, C.R., Kahn, R.S., Vorstman, J.A.S., and Bassett, A.S. (2021). Within-Family Influences on Dimensional Neurobehavioral Traits in a High-Risk Genetic Model. Psychol. Med., 1\u20139. Online ahead of print.","DOI":"10.1017\/S0033291720005279"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1002\/ajmg.a.38709","article-title":"Neurodevelopmental Outcome in 22q11.2 Deletion Syndrome and Management","volume":"176","author":"Swillen","year":"2018","journal-title":"Am. J. Med. Genet A"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1001\/jamapsychiatry.2014.2671","article-title":"Cognitive Decline Preceding the Onset of Psychosis in Patients with 22q11.2 Deletion Syndrome","volume":"72","author":"Vorstman","year":"2015","journal-title":"JAMA Psychiatry"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1007\/s00702-007-0766-9","article-title":"Cognition, Psychosocial Adjustment and Coping in Familial Cases of Velocardiofacial Syndrome","volume":"114","author":"Gothelf","year":"2007","journal-title":"J. Neural Transm"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.ajhg.2013.01.018","article-title":"Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes","volume":"92","author":"Delio","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1136\/jmedgenet-2011-100440","article-title":"Sex Differences in Reproductive Fitness Contribute to Preferential Maternal Transmission of 22q11.2 Deletions","volume":"48","author":"Costain","year":"2011","journal-title":"J. Med. Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0022-3476(99)70415-4","article-title":"Psychoeducational Profile of the 22q11.2 Microdeletion: A Complex Pattern","volume":"134","author":"Moss","year":"1999","journal-title":"J. Pediatr."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/10\/1800\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:47:01Z","timestamp":1760143621000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/10\/1800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,5]]},"references-count":24,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,10]]}},"alternative-id":["genes13101800"],"URL":"https:\/\/doi.org\/10.3390\/genes13101800","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,5]]}}}