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Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations.<\/jats:p>","DOI":"10.1002\/ajmg.c.31762","type":"journal-article","created":{"date-parts":[[2020,1,7]],"date-time":"2020-01-07T16:59:44Z","timestamp":1578416384000},"page":"107-115","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Other genomic disorders and congenital heart disease"],"prefix":"10.1002","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0707-657X","authenticated-orcid":false,"given":"Seema R.","family":"Lalani","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.007"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2011.05.117"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.038"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.02.012"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-3-3"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35767"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0929"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/379979"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2334"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000331272"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(96)80009-8"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000189"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(10)60015-0"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38254"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1789"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000130528.72330.5c"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2009.10.069"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-2"},{"issue":"3","key":"e_1_2_5_20_1","first-page":"175","article-title":"Assessment of the role of copy\u2010number variants in 150 patients with congenital heart defects","volume":"16","author":"Derwinska K.","year":"2012","journal-title":"Medycyna Wieku Rozwojowego"},{"issue":"3","key":"e_1_2_5_21_1","first-page":"191","article-title":"Further delineation of the KBG syndrome","volume":"9","author":"Devriendt K.","year":"1998","journal-title":"Genetic Counseling"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.129"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00815.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1080\/AC.67.6.2184667"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.554"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1019645108"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(89)90122-8"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.05.005"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.002"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30154"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.047696"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000177862.85474.63"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.415"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30090"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000084852.65396.70"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1074-7613(00)00017-0"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-011-0034-5"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1086\/375179"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002903"},{"issue":"4","key":"e_1_2_5_42_1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00794186","article-title":"Incidence of congenital heart disease: II. 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