Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies.
نویسندگان
چکیده
A case is described of selective immunoglobulin A deficiency in association with an 18q+ anomaly, apparently the result of a break at 18q23 and a de novo translocation. The presentation is compared with the phenotypic and immunological features in an IgA deficient 18q-- patient. The findings in these two patients suggest that gene(s) concerned with regulation of IgA synthesis are located on the distal long arm of chromosome 18 between 18q23 and qter.
منابع مشابه
Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18
Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18p- and distal 18q- syndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid ...
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Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18pand distal 18qsyndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid arth...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 6 شماره
صفحات -
تاریخ انتشار 1980