Chromosome studies in IgA-deficient patients.
Chromosome analysis was performed in 17 children with IgA-deficiency. In two patients a constitutional structural chromosome abnormality was found. A ring chromosome 22 was seen in one, while in the other a mosaicism of ring chromosome 18/18p+ was observed. Both patients were mentally retarded and showed distinct congenital defects. From ten asymptomatic patients, spontaneous as well as X-ray-induced chromosome instability was investigated. There was no increased spontaneous instability, and also after irradiation the induced chromosome damage was within normal control levels. A relationship between IgA-deficiency and X-ray hypersensitivity, as might be suggested by the frequently occurring coincidence of radiosensitivity and IgA-deficiency in ataxia telangiectasia patients, is not established.
D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations; D002875:Chromosomes / Q000528:radiation effects; D002887:Chromosomes, Human, Pair 18; D002892:Chromosomes, Human, Pair 22; D004406:Dysgammaglobulinemia / Q000235:genetics*; D005260:Female; D006801:Humans; D017098:IgA Deficiency; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes