DOSTAL, A., T. LINNANKIVI, M. SOMER, M. KAHKONEN, Jiří LITZMAN and P. TIENARI. Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. Int J Immunogenet. Anglie, 2007, vol. 34, No 3, p. 143-147. ISSN 1744-3121. |
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@article{748681, author = {Dostal, A. and Linnankivi, T. and Somer, M. and Kahkonen, M. and Litzman, Jiří and Tienari, P.}, article_location = {Anglie}, article_number = {3}, keywords = {IgA deficiency; chromosome 18; translocation}, language = {eng}, issn = {1744-3121}, journal = {Int J Immunogenet}, title = {Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations}, volume = {34}, year = {2007} }
TY - JOUR ID - 748681 AU - Dostal, A. - Linnankivi, T. - Somer, M. - Kahkonen, M. - Litzman, Jiří - Tienari, P. PY - 2007 TI - Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations JF - Int J Immunogenet VL - 34 IS - 3 SP - 143-147 EP - 143-147 SN - 17443121 KW - IgA deficiency KW - chromosome 18 KW - translocation N2 - This study presents a clinical report of the Finnish chromosome t(18q; 10p) translocation family with an overview of eight other selected immunoglobulin A (IgA)-deficient 18q deletion (18q-) patients from seven published articles. The family members show features common to 18q- 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-phenotype correlation study of the unbalanced t(18q-; 10p+) translocation family members and other 18q- syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3-q23 between markers D18S812-18qter. The haplo-insufficiency of the 18q22.3-q23 gene region is suggested to be a cause of the IgAD phenotype in 18q- individuals. This 7 Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD. ER -
DOSTAL, A., T. LINNANKIVI, M. SOMER, M. KAHKONEN, Jiří LITZMAN and P. TIENARI. Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. \textit{Int J Immunogenet}. Anglie, 2007, vol.~34, No~3, p.~143-147. ISSN~1744-3121.
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