Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1983 Feb;20(1):69–72. doi: 10.1136/jmg.20.1.69

Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?

J L García Miranda, A Otero Gómez, H Varela Ansedes, N Rancel Torres, C González Espinosa, C Cortabarría, G Sánchez Salgado
PMCID: PMC1048992  PMID: 6842539

Abstract

The cytogenetic analysis of a patient with selective deficit of IgA and decrease in IgM, IgE, and IgG is presented. Using trypsin-Giemsa banding the karyotype showed monosomy 22 (45,XX,-22). The interest of this case lies in the rarity of the illness and in the association of monosomy 22 with hypogammaglobulinaemia and selective deficit of IgA, particularly as this chromosome is known to contain genes coding for immunoglobulin chains.

Full text

PDF
71

Images in this article

70Image
on p.70
72Image
on p.72
72Image
on p.72

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. DeCicco F., Steele M. W., Pan S., Park S. C. Monosomy of chromosome No. 22. A case report. J Pediatr. 1973 Nov;83(5):836–838. doi: 10.1016/s0022-3476(73)80382-8. [DOI] [PubMed] [Google Scholar]
  2. Erikson J., Martinis J., Croce C. M. Assignment of the genes for human lambda immunoglobulin chains to chromosome 22. Nature. 1981 Nov 12;294(5837):173–175. doi: 10.1038/294173a0. [DOI] [PubMed] [Google Scholar]
  3. FAHEY J. L., MCKELVEY E. M. QUANTITATIVE DETERMINATION OF SERUM IMMUNOGLOBULINS IN ANTIBODY-AGAR PLATES. J Immunol. 1965 Jan;94:84–90. [PubMed] [Google Scholar]
  4. Greenwood R. D., Sommer A. Monosomy G: case report and review of the literature. J Med Genet. 1971 Dec;8(4):496–500. doi: 10.1136/jmg.8.4.496. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Kelch R. P., Franklin M., Schmickel R. D. Group G deletion syndromes. J Med Genet. 1971 Sep;8(3):341–345. doi: 10.1136/jmg.8.3.341. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Köhler G., Milstein C. Continuous cultures of fused cells secreting antibody of predefined specificity. Nature. 1975 Aug 7;256(5517):495–497. doi: 10.1038/256495a0. [DOI] [PubMed] [Google Scholar]
  7. LEJEUNE J., BERGER R., RETHORE M. O., ARCHAMBAULT L., JEROME H., THIEFFRY S., AICARDI J., BROYER M., LAFOURCADE J., CRUVEILLER J. MONOSOMIE PARTIELLE POUR UN PETIT ACROCENTRIQUE. C R Hebd Seances Acad Sci. 1964 Nov 30;259:4187–4190. [PubMed] [Google Scholar]
  8. Moghe M. S., Patel Z. M., Peter J. J., Ambani L. M. Monosomy 22 with mosaicism. J Med Genet. 1981 Feb;18(1):71–73. doi: 10.1136/jmg.18.1.71. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Richmond H. G., MacArthur P., Hunter D. A "G" deletion syndrome anti-mongolism. Acta Paediatr Scand. 1973 Mar;62(2):216–220. doi: 10.1111/j.1651-2227.1973.tb08096.x. [DOI] [PubMed] [Google Scholar]
  10. Shander M., Martinis J., Croce C. M. Genetics of human immunoglobulins: assignment of the genes for mu, alpha, and gamma immunoglobulin chains to human chromosome 14. Transplant Proc. 1980 Sep;12(3):417–420. [PubMed] [Google Scholar]
  11. Warren R. J., Rimoin D. L., Summitt R. L. Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. Am J Hum Genet. 1973 Jan;25(1):77–81. [PMC free article] [PubMed] [Google Scholar]
  12. Warren R. J., Rimoin D. L. The G deletion syndromes. J Pediatr. 1970 Oct;77(4):658–663. doi: 10.1016/s0022-3476(70)80209-8. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES