{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T08:09:14Z","timestamp":1758269354776,"version":"3.40.4"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2014,6,1]],"date-time":"2014-06-01T00:00:00Z","timestamp":1401580800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Cardiol"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1007\/s00246-014-0936-0","type":"journal-article","created":{"date-parts":[[2014,5,31]],"date-time":"2014-05-31T14:54:17Z","timestamp":1401548057000},"page":"1356-1362","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease"],"prefix":"10.1007","volume":"35","author":[{"given":"Jana\u00edna","family":"Huber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivian Catarino","family":"Peres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre Luz","family":"de Castro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiago Jeronimo","family":"dos Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauro","family":"da Fontoura Beltr\u00e3o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ang\u00e9lica Cerveira","family":"de Baumont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia Liliana","family":"Cossio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiago Pires","family":"Dalberto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9s Delgado","family":"Ca\u00f1edo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz D\u2019Agord","family":"Schaan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia Campos","family":"Pellanda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,6,1]]},"reference":[{"key":"936_CR1","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/sj.ejhg.5200399","volume":"7","author":"F Amati","year":"1999","unstructured":"Amati F, Conti E, Novelli A et al (1999) Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge\/velo-cardio-facial syndrome. Eur J Hum Genet 7:903\u2013909","journal-title":"Eur J Hum Genet"},{"key":"936_CR2","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","volume":"112","author":"LD Botto","year":"2003","unstructured":"Botto LD, May K, Fernhoff PM et al (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101\u2013107","journal-title":"Pediatrics"},{"key":"936_CR3","doi-asserted-by":"crossref","unstructured":"Brauner R, Le Harivel de Gonneville A, Kindermans C et al (2003) Parathyroid function and growth in 22q11.2 deletion syndrome. J Pediatr 142:504\u2013508","DOI":"10.1067\/mpd.2003.156"},{"key":"936_CR4","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/j.ijporl.2006.02.007","volume":"70","author":"BE Chegar","year":"2006","unstructured":"Chegar BE, Tatum SA, Marrinan E, Shprintzen RJ (2006) Upper airway asymmetry in velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 70:1375\u20131381","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"936_CR5","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.ygeno.2005.10.002","volume":"87","author":"YF Chen","year":"2006","unstructured":"Chen YF, Kou PL, Tsai SJ et al (2006) Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis. Genomics 87:290\u2013297","journal-title":"Genomics"},{"key":"936_CR6","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.schres.2006.01.019","volume":"84","author":"M Debban\u00e9","year":"2006","unstructured":"Debban\u00e9 M, Glaser B, David MK, Feinstein C, Eliez S (2006) Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: neuropsychological and behavioral implications. Schizophr Res 84:187\u2013193","journal-title":"Schizophr Res"},{"key":"936_CR7","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1097\/00008480-199412000-00016","volume":"6","author":"DA Driscoll","year":"1994","unstructured":"Driscoll DA (1994) Genetic basis of DiGeorge and velocardiofacial syndromes. Curr Opin Pediatr 6:702\u2013706","journal-title":"Curr Opin Pediatr"},{"key":"936_CR8","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1089\/gte.1997.1.109","volume":"1","author":"DA Driscoll","year":"1997","unstructured":"Driscoll DA, Emanuel BS, Mitchell LE, Budarf ML (1997) PCR assay for screening patients at risk for 22q11.2 deletion. Genet Test 1:109\u2013113","journal-title":"Genet Test"},{"key":"936_CR9","doi-asserted-by":"crossref","first-page":"601","DOI":"10.33588\/rn.3707.2003254","volume":"37","author":"J Eir\u00eds-Pu\u00f1al","year":"2003","unstructured":"Eir\u00eds-Pu\u00f1al J, Iglesias-Meleiro JM, Blanco-Barca MO et al (2003) Phenotypic variability of deletion 22q11.2: an analysis of 16 observations with special emphasis on the neurological manifestations. Rev Neurol 37:601\u2013607 (in Spanish)","journal-title":"Rev Neurol"},{"key":"936_CR10","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/j.1399-0004.2005.00493.x","volume":"68","author":"L Fern\u00e1ndez","year":"2005","unstructured":"Fern\u00e1ndez L, Lapunzina P, Arjona D et al (2005) Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet 68:373\u2013378","journal-title":"Clin Genet"},{"key":"936_CR11","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1089\/gte.2006.0507","volume":"11","author":"BH Funke","year":"2007","unstructured":"Funke BH, Brown AC, Ramoni MF et al (2007) A novel, single-nucleotide polymorphism-based assay to detect 22q11 deletions. Genet Test 11:91\u2013100","journal-title":"Genet Test"},{"key":"936_CR12","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1007\/BF02859280","volume":"73","author":"H Gawde","year":"2006","unstructured":"Gawde H, Patel ZM, Khatkhatey MI et al (2006) Chromosome 22 microdeletion by FISH in isolated congenital heart disease. Indian J Pediatr 73:885\u2013888","journal-title":"Indian J Pediatr"},{"key":"936_CR13","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<127::AID-AJMG6>3.0.CO;2-F","volume":"85","author":"M Gerdes","year":"1999","unstructured":"Gerdes M, Solot C, Wang PP et al (1999) Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 85:127\u2013133","journal-title":"Am J Med Genet"},{"key":"936_CR14","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.cca.2006.01.005","volume":"369","author":"L Gioli-Pereira","year":"2006","unstructured":"Gioli-Pereira L, Pereira AC, Mesquita SM, Lopes AA, Krieger JE (2006) PCR screening for 22q11.2 microdeletion: development of a new cost-effective diagnostic tool. Clin Chim Acta 369:78\u201381","journal-title":"Clin Chim Acta"},{"key":"936_CR15","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1590\/S0104-42302008000300023","volume":"54","author":"DL Gitai","year":"2008","unstructured":"Gitai DL, Romcy-Pereira RN, Gitai LL, Leite JP, Garcia-Cairasco N, Paco-Larson ML (2008) Genes and epilepsy I: epilepsy and genetic alterations. Rev Assoc Med Bras 54:272\u2013278 (in Portuguese)","journal-title":"Rev Assoc Med Bras"},{"key":"936_CR16","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/adc.79.4.348","volume":"79","author":"J Goodship","year":"1998","unstructured":"Goodship J, Cross I, LiLing J, Wren C (1998) A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79:348\u2013351","journal-title":"Arch Dis Child"},{"key":"936_CR17","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1136\/adc.88.6.523","volume":"88","author":"KL Greenhalgh","year":"2003","unstructured":"Greenhalgh KL, Aligianis IA, Bromilow G et al (2003) 22q11 Deletion: a multisystem disorder requiring multidisciplinary input. Arch Dis Child 88:523\u2013524","journal-title":"Arch Dis Child"},{"key":"936_CR18","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1755-8166-1-18","volume":"1","author":"A Halder","year":"2008","unstructured":"Halder A, Jain M, Kabra M, Gupta N (2008) Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases. Mol Cytogenet 1:18","journal-title":"Mol Cytogenet"},{"key":"936_CR19","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1006\/mcpr.2000.0340","volume":"15","author":"H Kariyazono","year":"2001","unstructured":"Kariyazono H, Ohno T, Ihara K et al (2001) Rapid detection of the 22q11.2 deletion with quantitative real-time PCR. Mol Cell Probes 15:71\u201373","journal-title":"Mol Cell Probes"},{"key":"936_CR20","first-page":"1","volume":"11","author":"RJ Kuczmarski","year":"2002","unstructured":"Kuczmarski RJ, Ogden CL, Guo SS et al (2002) 2000 CDC growth charts for the United States: methods and development. Vital Health Stat 11:1\u2013190","journal-title":"Vital Health Stat"},{"key":"936_CR21","doi-asserted-by":"crossref","first-page":"5444","DOI":"10.1093\/nar\/19.19.5444","volume":"19","author":"DK Lahiri","year":"1991","unstructured":"Lahiri DK, Nurnberger JI Jr (1991) A rapid nonenzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444","journal-title":"Nucleic Acids Res"},{"key":"936_CR22","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1136\/adc.88.1.61","volume":"88","author":"M Maharasingam","year":"2003","unstructured":"Maharasingam M, Ostman-Smith I, Pike MG (2003) A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery. Arch Dis Child 88:61\u201364","journal-title":"Arch Dis Child"},{"key":"936_CR23","first-page":"11","volume":"10","author":"DM McDonald-McGinn","year":"1999","unstructured":"McDonald-McGinn DM, Kirschner R, Goldmuntz E et al (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11\u201324","journal-title":"Genet Couns"},{"key":"936_CR24","first-page":"69","volume":"24","author":"F Moreno Izco","year":"2009","unstructured":"Moreno Izco F, Zuazo Zamalloa E, Gonz\u00e1lez Alvaredo S, Bereciartu Irastorza P (2009) 22q11 Deletion syndrome: an expanding phenotype. Neurologia 24:69\u201371 (in Spanish)","journal-title":"Neurologia"},{"key":"936_CR25","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1161\/01.CIR.91.2.494","volume":"91","author":"RM Payne","year":"1995","unstructured":"Payne RM, Johnson MC, Grant JW, Strauss AW (1995) Toward a molecular understanding of congenital heart disease. Circulation 91:494\u2013504","journal-title":"Circulation"},{"key":"936_CR26","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1590\/S0100-879X2003001000012","volume":"36","author":"AC Pereira","year":"2003","unstructured":"Pereira AC, Corr\u00eaa RF, Mota GF, Kim CA, Mesquita SF, Krieger JE (2003) High-specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups. Braz J Med Biol Res 36:1359\u20131365","journal-title":"Braz J Med Biol Res"},{"key":"936_CR27","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jmg.2004.030619","volume":"42","author":"A Rauch","year":"2005","unstructured":"Rauch A, Zink S, Zweier C et al (2005) Systematic assessment of atypical deletions reveals genotype\u2013phenotype correlation in 22q11.2. J Med Genet 42:871\u2013876","journal-title":"J Med Genet"},{"key":"936_CR28","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1002\/ajmg.a.32378","volume":"146A","author":"RF Rosa","year":"2008","unstructured":"Rosa RF, Pilla CB, Pereira VL et al (2008) 22q11.2 Deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil. Am J Med Genet A 146A:1655\u20131661","journal-title":"Am J Med Genet A"},{"key":"936_CR29","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","volume":"34","author":"AK Ryan","year":"1997","unstructured":"Ryan AK, Goodship JA, Wilson DI et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798\u2013804","journal-title":"J Med Genet"},{"key":"936_CR30","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","volume":"9","author":"PJ Scambler","year":"2000","unstructured":"Scambler PJ (2000) The 22q11 deletion syndromes. Hum Mol Genet 9:2421\u20132426","journal-title":"Hum Mol Genet"},{"key":"936_CR31","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1515\/JPEM.2006.19.7.943","volume":"19","author":"BD Schaan","year":"2006","unstructured":"Schaan BD, Huber J, Leite JC, Kiss A (2006) Cardiac surgery unmasks latent hypoparathyroidism in a child with the 22q11.2 deletion syndrome. J Pediatr Endocrinol Metab 19:943\u2013946","journal-title":"J Pediatr Endocrinol Metab"},{"key":"936_CR32","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1101\/gr.5986507","volume":"17","author":"TH Shaikh","year":"2007","unstructured":"Shaikh TH, O\u2019Connor RJ, Pierpont ME et al (2007) Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res 17:482\u2013491","journal-title":"Genome Res"},{"key":"936_CR33","doi-asserted-by":"crossref","first-page":"2924","DOI":"10.1002\/ajmg.a.32101","volume":"143A","author":"AC Stachon","year":"2007","unstructured":"Stachon AC, Baskin B, Smith AC et al (2007) Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A 143A:2924\u20132930","journal-title":"Am J Med Genet A"},{"key":"936_CR34","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/j.1469-8749.2007.00210.x","volume":"49","author":"K Aken Van","year":"2007","unstructured":"Van Aken K, De Smedt B, Van Roie A et al (2007) Motor development in school-aged children with 22q11 deletion (velocardiofacial\/DiGeorge syndrome). Dev Med Child Neurol 49:210\u2013213","journal-title":"Dev Med Child Neurol"},{"key":"936_CR35","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1046\/j.1365-2141.1998.00862.x","volume":"102","author":"SF Vervoordeldonk","year":"1998","unstructured":"Vervoordeldonk SF, Doumaid K, Remmerswaal EB et al (1998) Long-term detection of microchimaerism in peripheral blood after pretransplantation blood transfusion. Br J Haematol 102:1004\u20131009","journal-title":"Br J Haematol"},{"key":"936_CR36","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/humu.20330","volume":"27","author":"JA Vorstman","year":"2006","unstructured":"Vorstman JA, Jalali GR, Rappaport EF, Hacker AM, Scott C, Emanuel BS (2006) MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum Mutat 27:814\u2013821","journal-title":"Hum Mutat"},{"key":"936_CR37","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1016\/j.bjps.2008.02.007","volume":"61","author":"JC Widdershoven","year":"2008","unstructured":"Widdershoven JC, Beemer FA, Kon M, Dejonckere PH, Mink van der Molen AB (2008) Possible mechanisms and gene involvement in speech problems in the 22q11.2 deletion syndrome. J Plast Reconstr Aesthet Surg 61:1016\u20131023","journal-title":"J Plast Reconstr Aesthet Surg"},{"key":"936_CR38","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/1471-2431-10-88","volume":"10","author":"A Wozniak","year":"2010","unstructured":"Wozniak A, Wolnik-Brzozowska D, Wisniewska M et al (2010) Frequency of 22q11.2 microdeletion in children with congenital heart defects in western Poland. BMC Pediatr 10:88","journal-title":"BMC Pediatr"}],"container-title":["Pediatric Cardiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-014-0936-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00246-014-0936-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00246-014-0936-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,3]],"date-time":"2025-05-03T05:43:47Z","timestamp":1746251027000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00246-014-0936-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,1]]},"references-count":38,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["936"],"URL":"https:\/\/doi.org\/10.1007\/s00246-014-0936-0","relation":{},"ISSN":["0172-0643","1432-1971"],"issn-type":[{"type":"print","value":"0172-0643"},{"type":"electronic","value":"1432-1971"}],"subject":[],"published":{"date-parts":[[2014,6,1]]}}}