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Proceedings of the Annual Symposium on Computer Application in Medical Care logoLink to Proceedings of the Annual Symposium on Computer Application in Medical Care
. 1991:883–885.

On-line databases of human chromosome anomalies and variants.

D S Borgaonkar 1, N Reisor 1, R Shaffer 1
PMCID: PMC2247663  PMID: 1807740

Abstract

Gradual refinements in chromosome technology over the years have enabled biologists to study the chromosomes at the molecular level. An account of the development of a computerized technique for cataloguing all structural and numerical aberrations in human chromosomes and setting up of registries of abnormal human karyotypes for delineation of karyotype-phenotype relationship for future use has been emphasized in the present paper.

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Selected References

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

  1. Pettenati M. J., Wheeler M., Bartlett D. J., Subrt I., Rao N., Kroovand R. L., Burton B. K., Kahler S., Park H. K., Cosper P. 45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases. Am J Med Genet. 1991 Apr 1;39(1):42–47. doi: 10.1002/ajmg.1320390111. [DOI] [PubMed] [Google Scholar]

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