{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:05:43Z","timestamp":1764493543173},"reference-count":25,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2006,6,12]],"date-time":"2006-06-12T00:00:00Z","timestamp":1150070400000},"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":[[2006,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about its etiology, there is increasing evidence for a strong genetic contribution. Both numerical and structural chromosomal abnormalities have been described in patients with CDH. Partial trisomy 11q and partial trisomy 22 associated with the common t(11;22) has been reported in several cases of CDH. It has been assumed that the diaphragmatic defect seen in these individuals was primarily due to duplication of material from chromosome 22q11. However, in this report we describe a family with a t(11;12) in which one of two brothers with partial trisomy 11q has a left sided posterolateral CDH. This is the second case of CDH in partial trisomy 11q due to an unbalanced translocation other than t(11;22). Using array\u2010based comparative genomic hybridization and fluorescent in situ hybridization, we mapped the breakpoints in both brothers and their mother who is a balanced translocation carrier. Our results suggest that duplication of one or more genes on a \u223c19 Mb region of 11q23.3\u2010qter predisposes to the development of CDH. These effects may be the primary cause of CDH in individuals t(11;22) or may be additive to effects from the duplication of chromosome 22 material. We also conclude that the partial trisomy 11q syndrome has a variable phenotype and that CDH should be added to the spectrum of anomalies that can be present in this syndrome. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31321","type":"journal-article","created":{"date-parts":[[2006,6,13]],"date-time":"2006-06-13T02:02:06Z","timestamp":1150164126000},"page":"1580-1586","source":"Crossref","is-referenced-by-count":40,"title":["Congenital diaphragmatic hernia associated with duplication of 11q23\u2010qter"],"prefix":"10.1002","volume":"140A","author":[{"given":"M.","family":"Klaassens","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.A.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"van Dooren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Hochstenbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.J.","family":"Eussen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.W.","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.J.","family":"Galjaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Wouters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Poot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Laudy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Tibboel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"de Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,6,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1567-133X(02)00095-9"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1099-0496(200009)30:3<249::AID-PPUL9>3.0.CO;2-9"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273491"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-003-2133-7"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01992.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281567"},{"key":"e_1_2_7_8_1","first-page":"167","article-title":"Duplication 11 (q21 to 23 leads to qter) syndrome","volume":"13","author":"Francke U","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6745"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199708)17:8<761::AID-PD121>3.0.CO;2-A"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/21.1.114"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/429842"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/sqb.2003.68.323"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(03)00161-8"},{"key":"e_1_2_7_15_1","first-page":"75","article-title":"Where to look for the genes related to diaphragmatic hernia?","volume":"14","author":"Lurie IW","year":"2003","journal-title":"Genet Couns"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450113"},{"key":"e_1_2_7_17_1","first-page":"163","article-title":"Tandem duplication 11q23\u2010ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities","volume":"36","author":"Pfeiffer RA","year":"1993","journal-title":"Ann Genet"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278696"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10232"},{"key":"e_1_2_7_20_1","article-title":"Congenital Diaphragmatic Hernia Overview","author":"Pober BR","year":"2006","journal-title":"GeneReviews"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(04)00303-4"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990521)84:2<116::AID-AJMG6>3.0.CO;2-3"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420460605"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130906"},{"key":"e_1_2_7_25_1","first-page":"183","article-title":"[Trisomy 11qter(11q21 and 11q23\u2014\u2010qter) syndrome. Presentation of a case with familial translocation t(11;12) (q23,1\u2014\u2010qter;q24,3)]","volume":"38","author":"Vianello MG","year":"1986","journal-title":"Minerva Pediatr"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20134"}],"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.31321","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T20:13:36Z","timestamp":1696968816000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,12]]},"references-count":25,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2006,7,15]]}},"alternative-id":["10.1002\/ajmg.a.31321"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31321","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,12]]}}}