Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies.
- 1 December 1980
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (6) , 453-456
- https://doi.org/10.1136/jmg.17.6.453
Abstract
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.Keywords
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