{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T05:06:36Z","timestamp":1700283996250},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,11,1]],"date-time":"2002-11-01T00:00:00Z","timestamp":1036108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,1,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Complex congenital heart defects (CHD) are associated with a variety of single gene abnormalities and chromosomal rearrangements. Of the various forms of CHD, aortic arch interruption, a conotruncal heart defect, is relatively uncommon. Here we report a male neonate with aortic arch interruption type B, secundum atrial septal defect, perimembranous ventricular septal defect, patent ductus arteriosus, aortic and subaortic stenosis, and trisomy 5q31.1q35.1 resulting from a maternal balanced insertion (20;5). Chromosomal deletions, including deletion 22q11, have been reported with interrupted aortic arch (IAA); however, to our knowledge this is the first report of a trisomy of distal chromosome 5q associated with aortic arch interruption. Here we compare this child's features to other cases of trisomy 5q31.1q35.1, and review other causes of IAA. We conclude that gene dosage in this chromosomal region likely influences aortic arch development. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10064","type":"journal-article","created":{"date-parts":[[2002,12,28]],"date-time":"2002-12-28T17:02:21Z","timestamp":1041094941000},"page":"268-271","source":"Crossref","is-referenced-by-count":9,"title":["Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion"],"prefix":"10.1002","volume":"116A","author":[{"given":"Donna M.","family":"Martin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret H.","family":"Mindell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine A.","family":"Kwierant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas W.","family":"Glover","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerome L.","family":"Gorski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302041"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302410"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(59)90157-7"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01779.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(200005)61:5<329::AID-TERA3>3.0.CO;2-C"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.813"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.63.4.427"},{"key":"e_1_2_5_9_1","first-page":"186","article-title":"Distinct dysmorphic syndrome in a child with inverted distal 5q duplication","volume":"30","author":"Fryns JP","year":"1987","journal-title":"Ann Genet"},{"issue":"4","key":"e_1_2_5_10_1","first-page":"A80","article-title":"DiGeorge syndrome with del(4)(q21.3q25): Possibility of the fourth chromosome region responsible for DiGeorge syndrome","volume":"51","author":"Fukushima Y","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03677.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6844926"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198510033131401"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(200024)97:4<319::AID-AJMG1283>3.0.CO;2-E"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(200005)61:5<368::AID-TERA8>3.0.CO;2-N"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360210"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5373.108"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/35025190"},{"key":"e_1_2_5_19_1","first-page":"59","article-title":"The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome","volume":"10","author":"Van Esch H","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_5_20_1","first-page":"1027","article-title":"Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin\u20102","volume":"59","author":"Wang M","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960301)62:1<77::AID-AJMG16>3.0.CO;2-S"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.10064","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10064","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T01:44:23Z","timestamp":1700271863000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10064"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,11]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,1,30]]}},"alternative-id":["10.1002\/ajmg.a.10064"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10064","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,11]]}}}