Skip to main content
Log in

A low frequency mosaicism for monosomy 21 in a live born female

  • Clinical Case Reports
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Monosomy 21, whether homogeneous or as a mosaicism, is very uncommon. We report here a 3-month-old white female with a low degree of monosomy 21 in the blood karyotype (6.5%, 110 cells counted) but not in the skin fibroblasts, which contained only the normal chromosome complement.

The patient's physical features included microcephaly with frontal slanting; prominent occiput; ridge-shaped sutures; agenesis of the corpus callosum; large, prominent ears; high and narrow palate; micrognathia; tetralogy of Fallot; crowded toes; and dry, thick skin with very little subcutaneous tissue. The case is discussed in light of the suggested clinical features of the “monosomy 21” syndrome and the possible implications of such a low-grade mosaicism in prenatal diagnosis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Fryns, J. P., Hondt, F. D., Van der Berghe, H.: Full monosomy 21: A clinically recognizable syndrome. Hum. Genet. 37, 155–159 (1977)

    Google Scholar 

  • Greenwood, R. D., Sommer, H.: Monosomy G: case report and review of the literature. J. Med. Genet. 8, 496–500 (1971)

    Google Scholar 

  • de Grouchy, J., Truleau, C.: Clinical atlas of human chromosomes, pp. 200–209. New York: John Wiley and Sons 1977

    Google Scholar 

  • Halloran, K. H., Berg, W. R., Mahoney, M. J.: 21 monosomy in a retarded female infant. J. Med. Genet. 11, 386–389 (1974)

    Google Scholar 

  • Hook, E. B.: Exclusion of chromosomal mosaicism: table of 90%, 95% and 99% confidence limits and comments on use. Am. J. Hum. Genet. 29, 94–97 (1977)

    Google Scholar 

  • Mikkelsen, M., Vestermark, S.: Karyotype 45, XX,-21/46,XX,21q-in an infant with symptoms of G deletion syndrome I. J. Med. Genet. 11, 389–392 (1974)

    Google Scholar 

  • Summitt, R. L., Martens, P. R., Wilroy, R. S.: X-autosome translocation in normal mother and effectively 21-monosome daughter. J. Pediatr. 84, 539–546 (1974)

    Google Scholar 

  • Weber, F. M., Sparkes, R. S., Mueller, H.: Double monosomy mosaicism (45,X/45,XX,-21) in a retarded child with congenital malformations. Cytogenetics 10, 404–412 (1971)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lee, Ml., Rose, D., Lazzarini, A. et al. A low frequency mosaicism for monosomy 21 in a live born female. Hum Genet 51, 343–347 (1979). https://doi.org/10.1007/BF00283407

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00283407

Keywords

Navigation