{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T09:38:05Z","timestamp":1792057085210,"version":"4.4.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Seminars in Pediatric Neurology"],"published-print":{"date-parts":[[2007,9]]},"DOI":"10.1016\/j.spen.2007.07.005","type":"journal-article","created":{"date-parts":[[2007,11,27]],"date-time":"2007-11-27T20:45:00Z","timestamp":1196196300000},"page":"136-139","source":"Crossref","is-referenced-by-count":33,"title":["Deletion 22q11: Spectrum of Associated Disorders"],"prefix":"10.1016","volume":"14","author":[{"given":"Beverly N.","family":"Hay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.spen.2007.07.005_bib1","first-page":"56","article-title":"A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome","volume":"15","author":"Shprintzen","year":"1978","journal-title":"Cleft Palate J"},{"key":"10.1016\/j.spen.2007.07.005_bib2","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","article-title":"A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population","volume":"112","author":"Botto","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.spen.2007.07.005_bib3","series-title":"Specialist Fact Sheet","year":"2007"},{"key":"10.1016\/j.spen.2007.07.005_bib4","doi-asserted-by":"crossref","first-page":"e472","DOI":"10.1542\/peds.112.6.e472","article-title":"Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies","volume":"112","author":"McElhinney","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.spen.2007.07.005_bib5","first-page":"642","article-title":"Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes","volume":"163","author":"Rauch","year":"2004","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.spen.2007.07.005_bib6","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ajmg.a.31445","article-title":"Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate","volume":"143","author":"Sivertsen","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.spen.2007.07.005_bib7","first-page":"11","article-title":"The Philadelphia story: The 22q11.2 deletion: report on 250 patients","volume":"10","author":"McDonald-McGinn","year":"1999","journal-title":"Genet Couns"},{"key":"10.1016\/j.spen.2007.07.005_bib8","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/s00431-004-1577-8","article-title":"Presenting phenotype in 100 children with the 22q11 deletion syndrome","volume":"164","author":"Oskarsdottir","year":"2005","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.spen.2007.07.005_bib9","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1002\/(SICI)1097-0223(199709)17:9<867::AID-PD139>3.0.CO;2-B","article-title":"Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome","volume":"17","author":"Goodship","year":"1997","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.spen.2007.07.005_bib10","doi-asserted-by":"crossref","first-page":"e457","DOI":"10.1542\/peds.2005-0371","article-title":"Complete DiGeorge anomaly in the absence of neonatal hypocalcemia and velofacial and cardiac defects","volume":"116","author":"Al-Tamemi","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.spen.2007.07.005_bib11","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1136\/jcp.2004.023218","article-title":"Di-George syndrome presenting with hypocalcaemia in adulthood: Two case reports and a review","volume":"58","author":"Kar","year":"2005","journal-title":"J Clin Pathol"},{"key":"10.1016\/j.spen.2007.07.005_bib12","unstructured":"GeneReviews-22q11.2 deletion syndrome. Available at: http:\/\/www.genetests.org. Accessed May 15, 2007"},{"key":"10.1016\/j.spen.2007.07.005_bib13","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/j.1399-3038.2006.00409.x","article-title":"Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)","volume":"17","author":"Finocchi","year":"2006","journal-title":"Pediatr Allergy Immunol"},{"key":"10.1016\/j.spen.2007.07.005_bib14","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1056\/NEJM199910143411603","article-title":"Transplantation of thymus tissue in complete DiGeorge syndrome","volume":"341","author":"Markert","year":"1999","journal-title":"N Engl J Med"},{"key":"10.1016\/j.spen.2007.07.005_bib15","doi-asserted-by":"crossref","first-page":"4539","DOI":"10.1182\/blood-2006-10-048652","article-title":"Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: Outcome of 44 consecutive transplants","volume":"109","author":"Markert","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.spen.2007.07.005_bib16","article-title":"Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion)","author":"Antshel","year":"2006","journal-title":"J Autism Dev Disord"},{"key":"10.1016\/j.spen.2007.07.005_bib17","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1002\/mds.21103","article-title":"Neuromotor deficits in children with the 22q11 deletion syndrome","volume":"21","author":"Sobin","year":"2006","journal-title":"Mov Disord"},{"key":"10.1016\/j.spen.2007.07.005_bib18","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1080\/09297040590911185","article-title":"22q11.2 deletion syndrome: Genetics, neuroanatomy and cognitive\/behavioral features keywords","volume":"11","author":"Antshel","year":"2005","journal-title":"Child Neuropsychol"},{"key":"10.1016\/j.spen.2007.07.005_bib19","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1093\/cercor\/bhl097","article-title":"Mapping cortical thickness in children with 22q11.2 deletions","volume":"17","author":"Bearden","year":"2007","journal-title":"Cereb Cortex"},{"key":"10.1016\/j.spen.2007.07.005_bib20","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1080\/09297040590911239","article-title":"Effects of COMT genotype on behavioral symptomatology in the 22q11.2 deletion syndrome","volume":"11","author":"Bearden","year":"2005","journal-title":"Child Neuropsychol"},{"key":"10.1016\/j.spen.2007.07.005_bib21","article-title":"Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome","author":"van Amelsvoort","year":"2007","journal-title":"Psychol Med"},{"key":"10.1016\/j.spen.2007.07.005_bib22","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1001\/archpsyc.56.10.940","article-title":"High rates of schizophrenia in adults with velo-cardio-facial syndrome","volume":"56","author":"Murphy","year":"1999","journal-title":"Arch Gen Psychiatry"},{"key":"10.1016\/j.spen.2007.07.005_bib23","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1176\/appi.ajp.164.4.663","article-title":"Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 Deletion Syndrome","volume":"164","author":"Gothelf","year":"2007","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.spen.2007.07.005_bib24","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.jaapos.2006.08.006","article-title":"Ocular findings in the chromosome 22q11.2 deletion syndrome","volume":"11","author":"Forbes","year":"2007","journal-title":"J AAPOS"},{"key":"10.1016\/j.spen.2007.07.005_bib25","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","article-title":"Clinical features of 78 adults with 22q11 deletion syndrome","volume":"138","author":"Bassett","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.spen.2007.07.005_bib26","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s11010-007-9450-5","article-title":"Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2","volume":"303","author":"Snadrin-Garcia","year":"2007","journal-title":"Mol Cell Biochem"}],"container-title":["Seminars in Pediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909107000514?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909107000514?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,2]],"date-time":"2019-01-02T17:22:58Z","timestamp":1546449778000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909107000514"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["S1071909107000514"],"URL":"https:\/\/doi.org\/10.1016\/j.spen.2007.07.005","relation":{},"ISSN":["1071-9091"],"issn-type":[{"value":"1071-9091","type":"print"}],"subject":[],"published":{"date-parts":[[2007,9]]}}}