Summary
A semi-automatic method for recognition of chromosomal changes is presented: from a coded description of an abnormal chromosome (formulated with the aid of an R-banding technique), a computer program makes simulations to reconstitute this chromosomal image from a group of normal chromosomes. Nine types of aberrations (see text) can thus be recognised and the aggregate structure of a group of abnormal chromosomes occurring in a human karyotype can also be rediscovered.
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Absartz, M., Borgaonkar, D. S.: Chromosome arm involvement in interchanges. Lancet 1977I, 96
Caspersson, R., Zech, L., Johansson, C., Modest, E. J.: Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30, 215–227 (1970)
Caspersson, R., Lomakka, G., Zech, L.: The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and variability. Hereditas 67, 89–102 (1971)
Curnow, R. N., Franklin, M. E.: Some further problems in the classification of human chromosomes. Biometrics 29, 429–440 (1973)
Dutrillaux, B., Lejeune, J.: Sur une nouvelle technique d'analyse du caryotype humain. CR Acad. Sci. [D] (Paris) 272, 2638–2640 (1971)
Granlund, G. H.: The use of distribution functions to describle integrated density profiles of human chromosomes. J. Theor. Biol. 40, 573–589 (1973)
Gray, J. W., Carrano, A. V., Moore, D. H., II, Steinmetz, L. L., Minkler, J., Mayall, B. H., Mendelsohn, M. L., Van Dilla, M. A.: High-speed quantitative karyotyping by flow microfluorometry. Clin. Chem. 21 (9), 1258–1262 (1975)
Grouchy, J. de, Turleau, C.: Atlas des maladies chromosomiques. Paris: Expansion Scientifique Français3 1977
Habbema, J. D. F.: A discriminant analysis approach to the identification of human chromosomes. Biometrics 32, 919–928 (1976)
Hamerton, J. L.: Chromosome mutation. II. In: Human cytogenetics, Vol. 1, Chap. 8. New York-London: Academic Press 1971
Ladda, R., Atkins, L., Littlefield, J., Neurath, P., Marimuthu, K. M.: Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms tumor syndrome. Science 185, 784–787 (1974)
Mendelsohn, M. L., Bennett, D. E., Bogart, E., Mayall, B. E.: Computer-oriented analysis of human chromosomes — IV. deoxyribonucleic acid-based centromeric index. J. Histochem. Cytochem. 22, 554–560 (1974)
Mendelsohn, M. L., Carrano, A. V., Gray, J. W., Hayall, B. H., Van Dilla, M. A.: Image analysis, flow fluorometry and flow sorting of mammalian chromosomes. In: The molecular biology of the mammalian genetic apparatus, P. Ts'O (ed.), pp. 191–204. Amsterdam: Elsevier/North-Holland Biomedical Press 1977
Neurath, P. W., Kass, B., Low, D. A.: Individual human karyotyping through quantitative analysis. Comput. Biol. Med. 2, 181–193 (1972)
Picciano, D., Killian, D. J.: A semi-automated cytogenetic analysis system. Exp. Cell Res. 107, 431–434 (1977)
Prieur, M., Dutrillaux, B., Lejeune, J.: Planches descriptives des chromosomes humains (analyse en bandes R et nomenclature selon la conférence de Paris 1971). Ann. Genet. 16, 1 (1973), Paris; Expansion Scientifique Française 1973
Rosenfeld, C., Macieira-Coelho, A., Venuat, A. M., Jasmin, C., Tuan, T. Q.: Kinetics of the establishment of human peripheral blood cultures. J. Natl. Cancer Inst. 43, 581–595 (1969)
Rosenfeld, C., Goutner, A., Choquet, C., Venuat, A. M., Kayi Banda', B., Pico, J. L., Greaves, M. F.: Phenotypic characterisation of a unique non-T, non-B acute lymphoblastic leukemia cell line. Nature 267, 841–843 (1977a)
Rosenfeld, C., Goutner, A., Venuat, A. M., Choquet, C., Pilo, J. L., Dore, J. F., Liabeuf, A., Durandy, I., Desgrange, C., De Thé, G.: An effective human leukemic cell line. Reh. Eur. J. Cancer 13, 377–379 (1977b)
Turpin, R., Lejeune, J.: Caryotype normal et variations pathologiques. In: Les chromosomes humains, pp. 25–40. Paris: Gauthier Villars 1965
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Hazout, S., Venuat, A.M., Valleron, A.J. et al. Computer-aided analysis of chromosomal aberrations occurring in an abnormal human karyotype. Hum Genet 49, 133–145 (1979). https://doi.org/10.1007/BF00277635
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DOI: https://doi.org/10.1007/BF00277635