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Haploinsufficiency of\n                    <jats:italic>GATA4<\/jats:italic>\n                    is thought to play a critical role in the development of these birth defects. We describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genomic hybridization. To better define the genotype\/phenotype relationships associated with alterations of genes on 8p23.1, we review the spectrum of congenital heart and diaphragmatic defects that have been reported in individuals with isolated\n                    <jats:italic>GATA4<\/jats:italic>\n                    mutations and interstitial, terminal, and complex chromosomal rearrangements involving the 8p23.1 region. Our findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to\n                    <jats:italic>GATA4<\/jats:italic>\n                    , may play a role in the severe cardiac and diaphragmatic defects associated with 8p23.1 deletions. These findings also underscore the importance of conducting a careful cytogenetic\/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and\/or diaphragm. \u00a9 2009 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32896","type":"journal-article","created":{"date-parts":[[2009,7,18]],"date-time":"2009-07-18T02:11:10Z","timestamp":1247883070000},"page":"1661-1677","source":"Crossref","is-referenced-by-count":154,"title":["Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia"],"prefix":"10.1002","volume":"149A","author":[{"given":"Margaret J.","family":"Wat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oleg A.","family":"Shchelochkov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley 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