Summary
Using quinacrine fluorescence and Giemsa banding techniques we have identified an extra chromosome 22 in three non-mongoloid children with similar phenotypes and 47 chromosomes. In one of the children, the long arm of the extra 22 was shorter than usual. This 22q—chrcmcscme was observed in 4 normal family members with 46 chromosomes. In a fourth child, with similar physical findings, the extra G chromosome was shown to be neither a normal 21 nor 22. It must have arisen from a rearrangement in a parental gamete since it was not present in either parent's karyotype.
No constellation of clinical findings, in association with an extra G chromosome, is sufficient evidence for the diagnosis of trisomy 22. The positive identification of the extra chromosome must be made using fluorescence and banding.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
Literature
Caspersson, T., Zech, L., Johansson, C.: Differential binding of alkylating fluorochromes in human chromosomes. Exptl. Cell Res. 60, 315–319 (1970a).
Caspersson, T., Hulten, M., Lindsten, J., Zech, L.: Distinction between extra G-like chromosomes by quinacrine mustard fluorescence. Exptl. Cell Res. 63, 240–243 (1970b).
Day, R. W., Miles, C. P.: Familial Down's syndrome with undetected translocation. J. Pediat. 67, 399–409 (1965).
German, J., Chaganti, R. S. K., Mirkinson, A. E., Marillo-Cucci, G.: tTrisomy 22. Am. J. Hum. Genet. 24, 56a (1972).
Gustavson, K. H., Hitrec, V., Santesson, B.: Three non-mongoloid patients of similar phenotype with an extra G-like chromosome. Clinical Genetics 3, 135–146 (1972).
Hsu, L. Y. F., Shapiro, L. R., Gertner, M., Lieber, E., Hirschhorn, K.: Trisomy 22: a clinical entity. J. Pediat. 79, 12–19 (1971).
Lejeune, J., Gautier, M., Turpin, R.: Les chromosomes humains en culture de tissus. C.R. Acad. Sci., Paris, 248, 602–603 (1959).
Nielsen, J., Tsuboi, T., Friedrich, U., Mikkelsen, M., Lund, B., Steinicke, O.: Additional small acrocentric chromosomes: two cases. J. Ment. Defic. Res. 13, 106–122 (1969).
Pardue, M. L., Gall, J. G.: Chromosomal localization of mouse satellite DNA. Science 170, 1356–1358 (1970).
Punnett, H. H., Vaughan, V. C., III: Two unusual chromosomal phenotypes. Abstracts, Third Intl. Cong. Hum. Genet., p. 81, 1966.
Ricci, N., Dallapiccola, B., Preto, G.: Familial transmission of a Gq-(Ph'-like) chromosome. Ann. Genet. 13, 263–264 (1970).
Seabright, M.: A rapid banding technique for human chromosomes. Lancet 2, 971–972 (1971).
Author information
Authors and Affiliations
Additional information
This paper is dedicated to Professor Marcus M. Rhoades on his 70th birthday in grateful recognition of his friendship, help and advice.
Supported in part by U.S. Public Health Service Grants HD1313, RR-75 and TI-HD-66 from the National Institutes of Health. A portion of this paper was presented at the annual meeting of the Society for Pediatric Research, Atlantic City, N.J. May 1, 1971.
Rights and permissions
About this article
Cite this article
Punnett, H.H., Kistenmacher, M.L., Toro-Sola, M.A. et al. Quinacrine fluorescence and Giemsa banding in trisomy 22. Theoret. Appl. Genetics 43, 134–138 (1973). https://doi.org/10.1007/BF00306562
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00306562