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The family members show features common to 18q\u2212 syndrome such as mental retardation, multiple facial dysmorphism, foot\/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological\/infectious disorders including IgA deficiency (IgAD). Genotype\u2013phenotype correlation study of the unbalanced t(18q\u2212; 10p+) translocation family members and other 18q\u2212 syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3\u2013q23 between markers D18S812\u201318qter. The haplo\u2010insufficiency of the 18q22.3\u2013q23 gene region is suggested to be a cause of the IgAD phenotype in 18q\u2212 individuals. This 7\u00a0Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD.<\/jats:p>","DOI":"10.1111\/j.1744-313x.2007.00652.x","type":"journal-article","created":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T16:59:33Z","timestamp":1173286773000},"page":"143-147","source":"Crossref","is-referenced-by-count":21,"title":["Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3\u2013q23); report of familial cryptic chromosome t(18q; 10p) translocations"],"prefix":"10.1111","volume":"34","author":[{"given":"A.","family":"Dostal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Linnankivi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Somer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"K\u00e4hk\u00f6nen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Litzman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Tienari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,3,7]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"4074","article-title":"The immunosuppressant FK\u2010506 specifically inhibits mitogen\u2010induced activation of the interleukin\u20102 promoter and the isolated enhancer elements NFIL\u20102A and NF\u2010AT1","volume":"11","author":"Banerji S.S.","year":"1991","journal-title":"Molecular and Cellular Biology"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050571"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70172-0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2003.t01-1-07377.x"},{"key":"e_1_2_6_6_1","unstructured":"Cody J.D.(1997)Molecular analysis of the 18q\u2010 syndrome: identification of the region responsible for growth hormone deficiency.Thesis. 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