Chromosome studies in IgA-deficient patients

Clin Genet. 1987 Aug;32(2):81-7. doi: 10.1111/j.1399-0004.1987.tb03330.x.


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.

MeSH terms

  • Adolescent
  • Child
  • Chromosome Aberrations*
  • Chromosomes / radiation effects
  • Chromosomes, Human, Pair 18*
  • Chromosomes, Human, Pair 22*
  • Dysgammaglobulinemia / genetics*
  • Female
  • Humans
  • IgA Deficiency*
  • Intellectual Disability / genetics
  • Karyotyping
  • Lymphocytes / ultrastructure
  • Male
  • Mosaicism
  • Ring Chromosomes*