{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:10:03Z","timestamp":1792062603520,"version":"4.4.0"},"reference-count":50,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,7,1]]},"abstract":"<jats:p>Objectives. Although several studies describe the 22q11.2 deletion, population-based data are scant. Such data are needed to evaluate properly the impact, distribution, and clinical presentation of the deletion in the population. Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart defects.<\/jats:p>\n               <jats:p>Methods. We evaluated data on infants who were born from 1994 through 1999 to women who resided in metropolitan Atlanta. We matched records from the Metropolitan Atlanta Congenital Defects Program (a population-based registry with active case ascertainment), the Sibley Heart Center at Children\u2019s Healthcare of Atlanta, and the Division of Medical Genetics at Emory University. We used birth certificate data for the denominators of the rates.<\/jats:p>\n               <jats:p>Results. We identified 43 children with laboratory-confirmed 22q11.2 deletion among 255 849 births. The overall prevalence was 1 in 5950 births (95% confidence interval: 1 in 4417 to 1 in 8224 births). The prevalence was between 1 in 6000 and 1 in 6500 among whites, blacks, and Asians and 1 in 3800 among Hispanics. Most affected children (81%) had a heart defect, and many (1 in 3) had major extracardiac defects (other than velopalatal anomalies), including anomalies of the central nervous system. Overall, the deletion contributed to at least 1 of every 68 cases of major heart defects identified in the total birth cohort and, in particular, to 1 of every 2 cases diagnosed with interrupted aortic arch type B, 1 of every 5 with truncus arteriosus, and 1 of every 8 with tetralogy of Fallot.<\/jats:p>\n               <jats:p>Conclusions. The 22q11.2 deletion was common in this birth population. The clinical phenotype included a wide and variable spectrum of major cardiac and extracardiac anomalies. From these population-based data, one can estimate that at least 700 affected infants are born annually in the United States. Population-based estimates such as these should be useful to medical professionals and policy makers in planning for the optimal care of people with the 22q11.2 deletion.<\/jats:p>","DOI":"10.1542\/peds.112.1.101","type":"journal-article","created":{"date-parts":[[2004,8,14]],"date-time":"2004-08-14T00:43:47Z","timestamp":1092444227000},"page":"101-107","source":"Crossref","is-referenced-by-count":580,"title":["A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population"],"prefix":"10.1542","volume":"112","author":[{"given":"Lorenzo D.","family":"Botto","sequence":"first","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"May","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Emory University, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul M.","family":"Fernhoff","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia"},{"name":"Division of Medical Genetics, Emory University, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo","family":"Correa","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karlene","family":"Coleman","sequence":"additional","affiliation":[{"name":"Sibley Heart Center, Children\u2019s Healthcare of Atlanta, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja A.","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert K.","family":"Merritt","sequence":"additional","affiliation":[{"name":"Sibley Heart Center, Children\u2019s Healthcare of Atlanta, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie A.","family":"O\u2019Leary","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee-Yang","family":"Wong","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Marsha","family":"Elixson","sequence":"additional","affiliation":[{"name":"Sibley Heart Center, Children\u2019s Healthcare of Atlanta, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William T.","family":"Mahle","sequence":"additional","affiliation":[{"name":"Sibley Heart Center, Children\u2019s Healthcare of Atlanta, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.","family":"Campbell","sequence":"additional","affiliation":[{"name":"Sibley Heart Center, Children\u2019s Healthcare of Atlanta, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2003,7,1]]},"reference":[{"key":"2021121003382659700_R1","doi-asserted-by":"crossref","unstructured":"de la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet.1981;57:253\u2013256","DOI":"10.1007\/BF00278938"},{"key":"2021121003382659700_R2","doi-asserted-by":"crossref","unstructured":"Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr.1982;101:197\u2013200","DOI":"10.1016\/S0022-3476(82)80116-9"},{"key":"2021121003382659700_R3","doi-asserted-by":"crossref","unstructured":"Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet.1992;44:261\u2013268","DOI":"10.1002\/ajmg.1320440237"},{"key":"2021121003382659700_R4","unstructured":"Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet.1992;50:924\u2013933"},{"key":"2021121003382659700_R5","doi-asserted-by":"crossref","unstructured":"Yamagishi H, Maeda J, Tokumura M, et al. Ventricular septal defect associated with microdeletions of chromosome 22q11.2. Clin Genet.2000;58:493\u2013496","DOI":"10.1034\/j.1399-0004.2000.580612.x"},{"key":"2021121003382659700_R6","doi-asserted-by":"crossref","unstructured":"Boudjemline Y, Fermont L, Le Bidois J, Lyonnet S, Sidi D, Bonnet D. Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study. J Pediatr.2001;138:520\u2013524","DOI":"10.1067\/mpd.2001.112174"},{"key":"2021121003382659700_R7","doi-asserted-by":"crossref","unstructured":"Yong DE, Booth P, Baruni J, et al. Chromosome 22q11 microdeletion and congenital heart disease\u2014a survey in a paediatric population. Eur J Pediatr.1999;158:566\u2013570","DOI":"10.1007\/s004310051148"},{"key":"2021121003382659700_R8","doi-asserted-by":"crossref","unstructured":"Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: a review. Am J Med Genet.1999;86:359\u2013365","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2-V"},{"key":"2021121003382659700_R9","doi-asserted-by":"crossref","unstructured":"Liling J, Cross I, Burn J, Daniel CP, Tawn EJ, Parker L. Frequency and predictive value of 22q11 deletion. J Med Genet.1999;36:794\u2013795","DOI":"10.1136\/jmg.36.10.794"},{"key":"2021121003382659700_R10","unstructured":"Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Congenital heart defects in patients with DiGeorge\/velocardiofacial syndrome and del22q11. Genet Couns.1999;10:25\u201333"},{"key":"2021121003382659700_R11","unstructured":"McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns.1999;10:11\u201324"},{"key":"2021121003382659700_R12","doi-asserted-by":"crossref","unstructured":"Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol.1998;32:492\u2013498","DOI":"10.1016\/S0735-1097(98)00259-9"},{"key":"2021121003382659700_R13","doi-asserted-by":"crossref","unstructured":"Iserin L, de Lonlay P, Viot G, et al. Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr.1998;157:881\u2013884","DOI":"10.1007\/s004310050959"},{"key":"2021121003382659700_R14","doi-asserted-by":"crossref","unstructured":"Fokstuen S, Arbenz U, Artan S, et al. 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet.1998;53:63\u201369","DOI":"10.1034\/j.1399-0004.1998.531530113.x"},{"key":"2021121003382659700_R15","doi-asserted-by":"crossref","unstructured":"Worthington S, Bower C, Harrop K, Loh J, Walpole I. 22q11 deletions in patients with conotruncal heart defects. J Paediatr Child Health.1998;34:438\u2013443","DOI":"10.1046\/j.1440-1754.1998.00262.x"},{"key":"2021121003382659700_R16","doi-asserted-by":"crossref","unstructured":"McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test.1997;1:99\u2013108","DOI":"10.1089\/gte.1997.1.99"},{"key":"2021121003382659700_R17","doi-asserted-by":"crossref","unstructured":"Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet.1997;34:798\u2013804","DOI":"10.1136\/jmg.34.10.798"},{"key":"2021121003382659700_R18","doi-asserted-by":"crossref","unstructured":"Carlson C, Sirotkin H, Pandita R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet.1997;61:620\u2013629","DOI":"10.1086\/515508"},{"key":"2021121003382659700_R19","doi-asserted-by":"crossref","unstructured":"Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge\/velocardiofacial syndrome. J Med Genet.1998;35:789\u2013790","DOI":"10.1136\/jmg.35.9.789-a"},{"key":"2021121003382659700_R20","doi-asserted-by":"crossref","unstructured":"Woodin M, Wang PP, Aleman D, McDonald-McGinn D, Zackai E, Moss E. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med.2001;3:34\u201339","DOI":"10.1097\/00125817-200101000-00008"},{"key":"2021121003382659700_R21","doi-asserted-by":"crossref","unstructured":"Solot CB, Gerdes M, Kirschner RE, et al. Communication issues in 22q11.2 deletion syndrome: children at risk. Genet Med.2001;3:67\u201371","DOI":"10.1097\/00125817-200101000-00015"},{"key":"2021121003382659700_R22","doi-asserted-by":"crossref","unstructured":"Guerrini R, Carrozzo R. Epilepsy and genetic malformations of the cerebral cortex. Am J Med Genet.2001;106:160\u2013173","DOI":"10.1002\/ajmg.1569"},{"key":"2021121003382659700_R23","doi-asserted-by":"crossref","unstructured":"Gerdes M, Solot C, Wang PP, McDonald-McGinn DM, Zackai EH. Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Genet Med.2001;3:40\u201344","DOI":"10.1097\/00125817-200101000-00009"},{"key":"2021121003382659700_R24","doi-asserted-by":"crossref","unstructured":"Eliez S, Blasey CM, Schmitt EJ, White CD, Hu D, Reiss AL. Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia?Am J Psychiatry.2001;158:447\u2013453","DOI":"10.1176\/appi.ajp.158.3.447"},{"key":"2021121003382659700_R25","doi-asserted-by":"crossref","unstructured":"Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R. Velo-cardio-facial syndrome: implications of microdeletion 22q11 for schizophrenia and mood disorders. Am J Med Genet.2001;105:354\u2013362","DOI":"10.1002\/ajmg.1359"},{"key":"2021121003382659700_R26","doi-asserted-by":"crossref","unstructured":"Arinami T, Ohtsuki T, Takase K, et al. Screening for 22q11 deletions in a schizophrenia population. Schizophr Res.2001;52:167\u2013170","DOI":"10.1016\/S0920-9964(00)00192-4"},{"key":"2021121003382659700_R27","doi-asserted-by":"crossref","unstructured":"Wang PP, Woodin MF, Kreps-Falk R, Moss EM. Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Dev Med Child Neurol.2000;42:422\u2013427","DOI":"10.1017\/S0012162200000785"},{"key":"2021121003382659700_R28","doi-asserted-by":"crossref","unstructured":"Solot CB, Knightly C, Handler SD, et al. Communication disorders in the 22q11.2 microdeletion syndrome. J Commun Disord.2000;33:187\u2013203; quiz 203\u2013204","DOI":"10.1016\/S0021-9924(00)00018-6"},{"key":"2021121003382659700_R29","doi-asserted-by":"crossref","unstructured":"Shprintzen RJ. Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev.2000;6:142\u2013147","DOI":"10.1002\/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H"},{"key":"2021121003382659700_R30","doi-asserted-by":"crossref","unstructured":"Kawame H, Kurosawa K, Akatsuka A, Ochiai Y, Mizuno K. Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. Am J Med Genet.2000;94:77\u201378","DOI":"10.1002\/1096-8628(20000904)94:1<77::AID-AJMG16>3.0.CO;2-V"},{"key":"2021121003382659700_R31","doi-asserted-by":"crossref","unstructured":"Gerdes M, Solot C, Wang PP, et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet.1999;85:127\u2013133","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<127::AID-AJMG6>3.0.CO;2-F"},{"key":"2021121003382659700_R32","doi-asserted-by":"crossref","unstructured":"De Decker HP, Lawrenson JB. The 22q11.2 deletion: from diversity to a single gene theory. Genet Med.2001;3:2\u20135","DOI":"10.1097\/00125817-200101000-00002"},{"key":"2021121003382659700_R33","doi-asserted-by":"crossref","unstructured":"Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, Dallapiccola B. Auxological evaluation in patients with DiGeorge\/velocardiofacial syndrome (deletion 22q11.2 syndrome). Genet Med.2001;3:30\u201333","DOI":"10.1097\/00125817-200101000-00007"},{"key":"2021121003382659700_R34","doi-asserted-by":"crossref","unstructured":"Driscoll DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med.2001;3:14\u201318","DOI":"10.1097\/00125817-200101000-00004"},{"key":"2021121003382659700_R35","doi-asserted-by":"crossref","unstructured":"Hokanson JS, Pierpont E, Hirsch B, Moller JH. 22q11.2 microdeletions in adults with familial tetralogy of Fallot. Genet Med.2001;3:61\u201364","DOI":"10.1097\/00125817-200101000-00013"},{"key":"2021121003382659700_R36","doi-asserted-by":"crossref","unstructured":"Manji S, Roberson JR, Wiktor A, et al. Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect. Genet Med.2001;3:65\u201366","DOI":"10.1097\/00125817-200101000-00014"},{"key":"2021121003382659700_R37","doi-asserted-by":"crossref","unstructured":"McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!Genet Med.2001;3:23\u201329","DOI":"10.1097\/00125817-200101000-00006"},{"key":"2021121003382659700_R38","doi-asserted-by":"crossref","unstructured":"Momma K, Takao A, Matsuoka R, et al. Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults. Genet Med.2001;3:56\u201360","DOI":"10.1097\/00125817-200101000-00012"},{"key":"2021121003382659700_R39","doi-asserted-by":"crossref","unstructured":"Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med.2001;3:19\u201322","DOI":"10.1097\/00125817-200101000-00005"},{"key":"2021121003382659700_R40","doi-asserted-by":"crossref","unstructured":"Rauch A, Hofbeck M, Leipold G, et al. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. Am J Med Genet.1998;78:322\u2013331","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<322::AID-AJMG4>3.0.CO;2-N"},{"key":"2021121003382659700_R41","doi-asserted-by":"crossref","unstructured":"Lu JH, Chung MY, Hwang B, Chien HP. Prevalence and parental origin in tetralogy of Fallot associated with chromosome 22q11 microdeletion. Pediatrics.1999;104:87\u201390","DOI":"10.1542\/peds.104.1.87"},{"key":"2021121003382659700_R42","doi-asserted-by":"crossref","unstructured":"Borgmann S, Luhmer I, Arslan-Kirchner M, Kallfelz HC, Schmidtke J. A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients. Eur J Pediatr.1999;158:958\u2013963","DOI":"10.1007\/s004310051257"},{"key":"2021121003382659700_R43","doi-asserted-by":"crossref","unstructured":"Amati F, Mari A, Digilio MC, et al. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet.1995;95:479\u2013482","DOI":"10.1007\/BF00223856"},{"key":"2021121003382659700_R44","doi-asserted-by":"crossref","unstructured":"Mehraein Y, Wippermann CF, Michel-Behnke I, et al. Microdeletion 22q11 in complex cardiovascular malformations. Hum Genet.1997;99:433\u2013442","DOI":"10.1007\/s004390050385"},{"key":"2021121003382659700_R45","doi-asserted-by":"crossref","unstructured":"Webber SA, Hatchwell E, Barber JC, et al. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr.1996;129:26\u201332","DOI":"10.1016\/S0022-3476(96)70186-5"},{"key":"2021121003382659700_R46","doi-asserted-by":"crossref","unstructured":"Debrus S, Berger G, de Meeus A, et al. Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion. Hum Genet.1996;97:138\u2013144","DOI":"10.1007\/BF02265254"},{"key":"2021121003382659700_R47","doi-asserted-by":"crossref","unstructured":"Ghariani S, Dahan K, Saint-Martin K, et al. Polymicrogyria in chromosome 22q11 deletion syndrome. Eur J Paediatr Neurol.2002;6:73\u201377","DOI":"10.1053\/ejpn.2001.0544"},{"key":"2021121003382659700_R48","doi-asserted-by":"crossref","unstructured":"Nickel RE, Magenis RE. Neural tube defects and deletions of 22q11. Am J Med Genet.1996;66:25\u201327","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<25::AID-AJMG6>3.0.CO;2-V"},{"key":"2021121003382659700_R49","doi-asserted-by":"crossref","unstructured":"Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child.1998;79:348\u2013351","DOI":"10.1136\/adc.79.4.348"},{"key":"2021121003382659700_R50","doi-asserted-by":"crossref","unstructured":"Tezenas Du Montcel S, Mendizabai H, Ayme S, Levy A, Philip N. Prevalence of 22q11 microdeletion [letter]. J Med Genet.1996;33:719","DOI":"10.1136\/jmg.33.8.719"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/112\/1\/101\/1002367\/pe0703000101.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/112\/1\/101\/1002367\/pe0703000101.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T10:35:26Z","timestamp":1639132526000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/112\/1\/101\/63363\/A-Population-Based-Study-of-the-22q11-2-Deletion"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7,1]]},"references-count":50,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2003,7,1]]},"published-print":{"date-parts":[[2003,7,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.112.1.101","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7,1]]}}}