{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T22:33:19Z","timestamp":1782167599462,"version":"3.54.5"},"reference-count":23,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Medical Journal Armed Forces India"],"published-print":{"date-parts":[[2023,12]]},"DOI":"10.1016\/j.mjafi.2022.05.014","type":"journal-article","created":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T07:43:17Z","timestamp":1659339797000},"page":"S196-S201","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"S1","title":["Diagnosis of 22q11.2 deletion syndrome in children with congenital heart diseases and facial dysmorphisms"],"prefix":"10.1016","volume":"79","author":[{"given":"Manisha","family":"Agarwal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aradhana","family":"Dwivedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.mjafi.2022.05.014_bib1","first-page":"1","article-title":"What is new in genetics of congenital heart defects?","volume":"120","author":"Digilio","year":"2016","journal-title":"Front Pediatr"},{"issue":"5","key":"10.1016\/j.mjafi.2022.05.014_bib2","doi-asserted-by":"crossref","first-page":"357","DOI":"10.4070\/kcj.2015.45.5.357","article-title":"Genetic Syndromes associated with congenital heart disease","volume":"45","author":"Ko","year":"2015","journal-title":"Korean Circ J"},{"issue":"21","key":"10.1016\/j.mjafi.2022.05.014_bib3","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide","volume":"58","author":"van der Linde","year":"2011","journal-title":"J Am Coll Cardiol"},{"issue":"12","key":"10.1016\/j.mjafi.2022.05.014_bib4","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1016\/S0735-1097(02)01886-7","article-title":"The incidence of congenital heart disease","volume":"39","author":"Hoffman","year":"2002","journal-title":"J Am Coll Cardiol"},{"issue":"5","key":"10.1016\/j.mjafi.2022.05.014_bib5","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1111\/chd.12220","article-title":"Epidemiology of congenital heart disease in India","volume":"10","author":"Dixit","year":"2015","journal-title":"Congenit Heart Dis"},{"issue":"21","key":"10.1016\/j.mjafi.2022.05.014_bib6","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic basis for congenital heart disease: revisited: A scientific statement from the American heart association","volume":"138","author":"Pierpont","year":"2018","journal-title":"Circulation"},{"issue":"10","key":"10.1016\/j.mjafi.2022.05.014_bib7","doi-asserted-by":"crossref","first-page":"2087","DOI":"10.1002\/ajmg.a.38662","article-title":"Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: from well-established knowledge to new frontiers","volume":"176","author":"Unolt","year":"2018","journal-title":"Am J Med Genet"},{"issue":"16","key":"10.1016\/j.mjafi.2022.05.014_bib8","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","article-title":"The 22q11 deletion syndromes","volume":"9","author":"Scambler","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.mjafi.2022.05.014_bib9","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1101\/gr.248682.119","article-title":"The 22q11 low copy repeats are characterized by unprecedented size and structural variability","volume":"29","author":"Demaerel","year":"2019","journal-title":"Genome Res"},{"issue":"2","key":"10.1016\/j.mjafi.2022.05.014_bib10","doi-asserted-by":"crossref","first-page":"118","DOI":"10.4103\/0022-3859.167730","article-title":"FISHed\u201d out the diagnosis: a case of DiGeorge syndrome","volume":"62","author":"Bajaj","year":"2016","journal-title":"J Postgrad Med"},{"issue":"1","key":"10.1016\/j.mjafi.2022.05.014_bib11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2350-10-48","article-title":"A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review","volume":"10","author":"Fern\u00e1ndez","year":"2009","journal-title":"BMC Med Genet"},{"issue":"1","key":"10.1016\/j.mjafi.2022.05.014_bib12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40949-020-00055-7","article-title":"Congenital heart disease in Down syndrome \u2013 a review of temporal changes","volume":"5","author":"Santoro","year":"2021","journal-title":"J Congenit Heart Dis"},{"issue":"1","key":"10.1016\/j.mjafi.2022.05.014_bib13","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ddrr.3","article-title":"Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements","volume":"14","author":"Emanuel","year":"2008","journal-title":"Dev Disabil res Rev"},{"issue":"1","key":"10.1016\/j.mjafi.2022.05.014_bib14","first-page":"135","article-title":"Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes","volume":"138","author":"Halder","year":"2013","journal-title":"IJMR"},{"key":"10.1016\/j.mjafi.2022.05.014_bib15","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1161\/01.CIR.43.3.323","article-title":"Congenital heart disease in 56,109 births incidence and natural history","volume":"43","author":"Mitchell","year":"1971","journal-title":"Circulation"},{"key":"10.1016\/j.mjafi.2022.05.014_bib16","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jpeds.2016.04.067","article-title":"Congenital heart defects and measures of fetal growth in newborns with down syndrome or 22q11.2 deletion syndrome","volume":"175","author":"Matthiesen","year":"2016","journal-title":"J Pediatr"},{"key":"10.1016\/j.mjafi.2022.05.014_bib17","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1097\/00125817-200101000-00010","article-title":"Anatomic patterns of conotruncal defects associated with deletion 22q11","volume":"3","author":"Marino","year":"2001","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.mjafi.2022.05.014_bib18","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/S0735-1097(98)00259-9","article-title":"Frequency of 22q11 deletions in patients with conotruncal defects","volume":"32","author":"Goldmuntz","year":"1998","journal-title":"Am Coll cardiol"},{"key":"10.1016\/j.mjafi.2022.05.014_bib19","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/1471-2431-10-88","article-title":"Frequency of 22q11.2 microdeletion in children with congenital heart defects in western Poland","volume":"10","author":"Wozniak","year":"2010","journal-title":"BMC Pediatr"},{"issue":"4","key":"10.1016\/j.mjafi.2022.05.014_bib20","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1055\/s-0040-1713155","article-title":"Congenital heart defects and dysmorphic facial features in patients suspicious of 22q11.2 deletion syndrome in southern Brazil","volume":"9","author":"Diniz","year":"2020","journal-title":"J Pediatr Genet"},{"issue":"4","key":"10.1016\/j.mjafi.2022.05.014_bib21","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ejmg.2016.02.009","article-title":"The use of two different MLPA kits in 22q11.2 deletion syndrome","volume":"59","author":"Evers","year":"2016","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.mjafi.2022.05.014_bib22","doi-asserted-by":"crossref","DOI":"10.1155\/2020\/6945730","article-title":"Screening of 22q11.2DS using multiplex ligation-dependent probe amplification as an alternative diagnostic method","volume":"2020","author":"Maran","year":"2020","journal-title":"BioMed Res Int"},{"issue":"24","key":"10.1016\/j.mjafi.2022.05.014_bib23","doi-asserted-by":"crossref","first-page":"2924","DOI":"10.1002\/ajmg.a.32101","article-title":"Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification","volume":"143A","author":"Stachon","year":"2007","journal-title":"Am J Med Genet"}],"container-title":["Medical Journal Armed Forces India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0377123722000831?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0377123722000831?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T11:53:02Z","timestamp":1759837982000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0377123722000831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":23,"alternative-id":["S0377123722000831"],"URL":"https:\/\/doi.org\/10.1016\/j.mjafi.2022.05.014","relation":{},"ISSN":["0377-1237"],"issn-type":[{"value":"0377-1237","type":"print"}],"subject":[],"published":{"date-parts":[[2023,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis of 22q11.2 deletion syndrome in children with congenital heart diseases and facial dysmorphisms","name":"articletitle","label":"Article Title"},{"value":"Medical Journal Armed Forces India","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mjafi.2022.05.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Director General, Armed Forces Medical Services. Published by Elsevier, a division of RELX India Pvt. Ltd.","name":"copyright","label":"Copyright"}]}}