Summary
For the identification of an extra chromosome in a female child a number of recently developed staining techniques were used.
The extra element found in 86% of the patient's peripheral lymphocytes resembles an isochromosome for the short arm of chromosome No. 9, in which case a tetrasomy for this arm would exist. The clinical findings in our patient were compared with those in patients reported to have extra chromosome 9 material.
Similar content being viewed by others
References
Bobrow, M., Madan, Kamlesh, Pearson, P. L.: Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. Nature (Lond.) New Biol. 238, 122–124 (1972)
Caspersson, T., Zech, L., Johansson, C., Modest, E. J.: Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma (Berl.) 30, 215–227 (1970)
Feingold, M., Atkins, L.: A case of trisomy 9. J. med. Genet. 10, 184–187 (1973)
Ghymers, D., Hermann, B., Distèche, C., Frederic, J.: Tétrasomie partielle du chromosome 9, à l'état de mosaïque, chez un enfant porteur de malformations multiples. Humangenetik 20, 273–282 (1973)
Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., Neil, C. A.: Trisomy 9 mosaicism with multiple congenital anomalies. J. med. Genet. 10, 180–184 (1973)
Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res. 20, 613–616 (1960)
Rethoré, M. O., Hoehn, H., Rott, H. D., Couturier, J., Dutrillaux, B., Lejeune, J.: Analyse de la trisomie 9p par dénaturation ménagée. A propos d'un nouveau cas. Humangenetik 18, 129–138 (1973)
Scheres, J. M. J. C.: Identification of two Robertsonian translocations with a Giemsa banding technique. Humangenetik 15, 253–256 (1972)
Scheres, J. M. J. C.: Production of C and T bands in human chromosomes after heart treatment at high pH and staining with “Stains-all”. Humangenetik 23, 311–314 (1974)
Seabright, M.: The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma (Berl.) 36, 204–210 (1972)
Turpin, R., Lejeune, J.: Les chromosomes humains. Paris: Gauthier-Villars 1965
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Rutten, F.J., Scheres, J.M.J.C., Hustinx, T.W.J. et al. A presumptive tetrasomy for the short arm of chromosome 9. Hum Genet 25, 163–170 (1974). https://doi.org/10.1007/BF00281423
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00281423