{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:49:55Z","timestamp":1788839395504,"version":"build-2803163510"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T00:00:00Z","timestamp":1630972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["U01MH119759"],"award-info":[{"award-number":["U01MH119759"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004040","name":"KU Leuven","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004040","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duplications on Chromosome 22q11.2 (22q11.2 dup) are associated with a wide spectrum of physical and neurodevelopmental features. In this chart review, physical, developmental, and behavioral features of 28 patients with 22q11.2 dup (median age\u00a0=\u00a017.11\u2009years) are reported, and phenotypes of de novo and inherited duplications are compared. Common medical anomalies include nutritional problems (57%), failure to thrive (33%), transient hearing impairment (52%), and congenital heart defects (33%). Developmental, speech\u2010language, and motor delay are common in infancy, while attention (64%), learning (60%), and motor problems (52%) are typically reported at primary school age. Attention\u2010deficit\/hyperactivity disorders are diagnosed in 44%. Median full\u2010scale intelligence quotient is in the borderline range (IQ 76), with one\u2010fifth of patients having mild intellectual disability. Longitudinal data in 11 patients, with the first assessment at a median age of 5.2\u2009years and the second assessment at a median age of 8.8\u2009years, indicate that almost two\u2010third of patients have a relative stable cognitive trajectory, whereas one\u2010third show a growing into deficit profile. In patients with de novo duplications, there is a trend of more failure to thrive, while more patients with inherited duplications follow special education.<\/jats:p>","DOI":"10.1002\/ajmg.a.62487","type":"journal-article","created":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T13:54:52Z","timestamp":1631022892000},"page":"46-57","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Cross\u2010sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3024-8520","authenticated-orcid":false,"given":"Jente","family":"Verbesselt","sequence":"first","affiliation":[{"name":"Department of Human Genetics Catholic University Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7954-1720","authenticated-orcid":false,"given":"Inge","family":"Zink","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Research Group Experimental Oto\u2010Rhino\u2010Laryngology (ExpORL)  Leuven Belgium"},{"name":"Department of Oto\u2010Rhino\u2010Laryngology, Head and Neck Surgery MUCLA, University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0734-5154","authenticated-orcid":false,"given":"Jeroen","family":"Breckpot","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Catholic University Leuven  Leuven Belgium"},{"name":"Centre for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4258-4537","authenticated-orcid":false,"given":"Ann","family":"Swillen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Catholic University Leuven  Leuven Belgium"},{"name":"Centre for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,9,7]]},"reference":[{"key":"e_1_2_10_2_1","volume-title":"Manual for the ASEBA school\u2010age forms and profiles","author":"Achenbach T. M.","year":"2001"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_10_4_1","volume-title":"Bayley scales of infant development","author":"Bayley N.","year":"1993"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62032"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.euroneuro.2017.08.008"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0171-7"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp042"},{"key":"e_1_2_10_9_1","volume-title":"Autism Diagnostic Observation Schedule\u2014Second Edition (ADOS\u20102). Nederlandse bewerking. Autisme diagnostisch observatieschema","author":"Bildt A.","year":"2013"},{"key":"e_1_2_10_10_1","volume-title":"Autism Diagnostic Interview, Revised (ADI\u2010R). Nederlandse bewerking. Autisme diagnostisch interview\u2014Revised","author":"Jonge M.","year":"2003"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2007.00955.x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4478"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1157"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/378818"},{"key":"e_1_2_10_15_1","first-page":"1","volume-title":"Gene reviews","author":"Firth H. V.","year":"2013"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.3928\/19382359-20180419-01"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.12970\/2310-8231.2017.05.06"},{"key":"e_1_2_10_18_1","volume-title":"JASP (version 0.14.1)","author":"JASP Team","year":"2020"},{"key":"e_1_2_10_19_1","volume-title":"Clinical evaluation of language fundamentals (CELF\u20134\u2013NL) Nederlandse versie. Handleiding [CELF\u20134 Dutch adaptation manual]","author":"Kort W.","year":"2010"},{"key":"e_1_2_10_20_1","volume-title":"WISC\u2010III\u2010NL Wechsler Intelligence Scale for children. David Wechsler. Derde Editie NL. Handleiding en Verantwoording","author":"Kort W.","year":"2005"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2019.12.028"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1237724"},{"key":"e_1_2_10_23_1","volume-title":"Autism diagnostic observation schedule","author":"Lord C.","year":"2012"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/340363"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32378"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2215-0366(18)30168-8"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b64c2"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11920-007-0085-8"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0266-3"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.02.008"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2013.156"},{"key":"e_1_2_10_32_1","volume-title":"Autism Diagnostic Interview, Revised (ADI\u2010R)","author":"Rutter M.","year":"2003"},{"key":"e_1_2_10_33_1","volume-title":"Reynell Taalontwikkelingsschalen (RTOS). Handleiding: Tweede versie","author":"Schaerlaekens A.","year":"2003"},{"key":"e_1_2_10_34_1","volume-title":"Schlichting Test voor Taalproductie\u2010II; Handleiding","author":"Schlichting J. E. P.","year":"2010"},{"key":"e_1_2_10_35_1","volume-title":"CELF\u20104\u2010NL Clinical Evaluation of Language Fundamenals Nederlandse Versie Handleiding [CELF\u20104\u2010NL Dutch adaptation manual]","author":"Semel E.","year":"2010"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31435"},{"key":"e_1_2_10_37_1","volume-title":"Handleiding en Verantwoording","author":"Tellegen P.","year":"1998"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.psychres.2015.12.019"},{"issue":"2","key":"e_1_2_10_39_1","first-page":"135","article-title":"Microduplication 22q11.2: A description of the clinical, developmental and behavioral characteristics during childhood","volume":"23","author":"Campenhout S.","year":"2012","journal-title":"Genetic Counseling"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2018.04.026"},{"key":"e_1_2_10_41_1","volume-title":"Bayley Scales of Infant Development\u2010II\u2010Nederlandse Versie. Handleiding","author":"Meulen B. F.","year":"2004"},{"key":"e_1_2_10_42_1","volume-title":"WPPSI\u2010R, Wechsler Preschool and Primary Scale of Intelligence. Vlaams\u2010Nederlandse Aanpassing, Handleiding","author":"Vander Steene G.","year":"1997"},{"key":"e_1_2_10_43_1","volume-title":"Wechsler Preschool and Primary Scale of Intelligence\u2014revised","author":"Wechsler D.","year":"1989"},{"key":"e_1_2_10_44_1","volume-title":"Wechsler Intelligence Scale for Children","author":"Wechsler D.","year":"1991"},{"key":"e_1_2_10_45_1","volume-title":"Wechsler Preschool and Primary Scale of Intelligence","author":"Wechsler D.","year":"2002"},{"key":"e_1_2_10_46_1","volume-title":"Wechsler Intelligence Scale for Children (5th ed.): WISC\u2010V","author":"Wechsler D.","year":"2014"},{"key":"e_1_2_10_47_1","volume-title":"Wechsler Intelligence Scale for Children\u2014Fifth Edition\u2014Nederlandstalige bewerking. Afname\u2010en scoringshandleiding","author":"Wechsler D.","year":"2018"},{"key":"e_1_2_10_48_1","volume-title":"WPPSI\u2010III\u2010NL. Nederlandstalige bewerking. Afname en Scoringshandleiding","author":"Wechsler D.","year":"2009"},{"key":"e_1_2_10_49_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-016-0090-z"},{"key":"e_1_2_10_50_1","doi-asserted-by":"publisher","DOI":"10.1159\/000327982"},{"key":"e_1_2_10_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.507"},{"key":"e_1_2_10_52_1","doi-asserted-by":"publisher","DOI":"10.1086\/429841"},{"key":"e_1_2_10_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61345"},{"key":"e_1_2_10_54_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-020-00849-z"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62487","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62487","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62487","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T19:05:29Z","timestamp":1692558329000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,7]]},"references-count":53,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/ajmg.a.62487"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62487","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,7]]},"assertion":[{"value":"2021-04-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}