{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:54:56Z","timestamp":1773791696888,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2011,4,8]],"date-time":"2011-04-08T00:00:00Z","timestamp":1302220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Aim:\u2002<\/jats:bold> To determine the frequency of chromosomal aberrations particularly 22q11 deletion in Indian children \u22642\u2003years with different types of conotruncal malformations and their association with abnormal aortic arch. Additionally, extracardiac features were also studied.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> Conventional cytogenetic and fluorescence <jats:italic>in situ<\/jats:italic> hybridization analyses were performed in 254 patients with conotruncal defects. Multivariable logistic regression analysis was performed to ascertain extracardiac features helpful in identifying high\u2010risk patients with deletion.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> Chromosomal abnormalities were identified in 52 (21%) children, of whom 49 (94%) showed 22q11 deletion and 3 (6%) had abnormalities of chromosome 6, 2 and X. None of the 11\/254 children with tetralogy of Fallot with absent pulmonary valve showed deletion. The association of 22q11 deletion with right sidedness of the aortic arch varied with the type of conotruncal defect. The eight extracardiac features in combination showed 93.5% agreement with the presence of deletion.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> The extracardiac features along with specific type of conotruncal defect and associated cardiovascular anomaly should alert the clinician for 22q11 deletion testing. However, if deletion analysis is not possible, specific extracardiac features (six dysmorphic facial features, thin long fingers and hypocalcemia) can help to identify an increased risk of 22q11 deletion in patients with conotruncal defect.<\/jats:p>","DOI":"10.1111\/j.1651-2227.2011.02271.x","type":"journal-article","created":{"date-parts":[[2011,3,18]],"date-time":"2011-03-18T15:44:35Z","timestamp":1300463075000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children"],"prefix":"10.1111","volume":"100","author":[{"given":"A","family":"Anilkumar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Kappanayil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MV","family":"Thampi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Nampoothiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"KR","family":"Sundaram","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DM","family":"Vasudevan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,4,8]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026880"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh041"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0242-x"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5986507"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.014"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00006"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-48"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0645-2"},{"key":"e_1_2_8_11_2","first-page":"32","article-title":"Cardiac abnormalities and facial anthropometric measurements in children from the Free State and Northern Cape provinces of South Africa with chromosome 22q11.2 microdeletion","volume":"21","author":"Brown SC","year":"2010","journal-title":"Cardiovasc J Afr"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050959"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(99)80803-0"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20541"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.183056"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.6"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.030619"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-7-18"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31882"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32101"}],"container-title":["Acta Paediatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1651-2227.2011.02271.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1651-2227.2011.02271.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T03:56:11Z","timestamp":1697428571000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1651-2227.2011.02271.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4,8]]},"references-count":19,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["10.1111\/j.1651-2227.2011.02271.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1651-2227.2011.02271.x","archive":["Portico"],"relation":{},"ISSN":["0803-5253","1651-2227"],"issn-type":[{"value":"0803-5253","type":"print"},{"value":"1651-2227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,4,8]]},"assertion":[{"value":"2011-04-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}