Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies
- PMID: 6782212
- PMCID: PMC1885921
- DOI: 10.1136/jmg.17.6.453
Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies
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.
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