Zusammenfassung
Bei zwei Geschwistern mit Russel-Syndrom konnten gehäuft Chromosomenbrüche festgestellt werden. Die cytogenetische Bedeutung dieses Befundes wird erörtert, besonders im Hinblick auf exogene Entstehungsursachen und auf vier bisher beschriebene Syndrome mit spontanen Chromosomenbrüchen.
Summary
Two sibs with Russel-syndrome and frequent chromatid-breaks are described. The cytogenetic meaning of our findings is discussed with special reference to a possible exogenic origine and the results are compared with four well recognised syndroms where chromosome-breaks are known to occur.
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Literatur
Amann, P.: Beitrag zum Syndrom des “low birth weight dwarfism”. Helv. paediat. Acta18, 449 (1963).
Annotations: Chromosome breakage and leukaemia. Lancet1967I, 36.
Black, J.: Low birth weight dwarfism. Arch. Dis. Childh.36, 633 (1961).
Bloom, G. E., Warner, S., Gerald, P. S., Diamond, L. K.: Chromosome abnormalities in constitutional aplasctic anaemia. New Engl. J. Med.274, 8 (1966).
Brehme, H., Schröter, R.: Hautleistenbefunde von 15 Patienten mit Russel-Silver-Syndrom. Humangenetik5, 28 (1967).
Ferrier, P. E., Ferrier, S. A.: Silver's syndrome: report of a case with chromosomal and dermatoglyphic study. J. Paediat.70, 438 (1967).
Gellis, S. S., Feingold, M.: Silver's syndrome (syndrome of congenital asymmetry, short stature and variations in the pattern of sexual development). Amer. J. Dis. Child.114, 310 (1967).
German, J., Pugliatti Crippa, L.: Chromosomal breakage in diploid cell lines from Bloom's syndrome and Fanconi's anaemia. Ann. Génét.9, 143 (1966).
Girard, J., Kaufmann, H. J.: Der Russel-Zwerg. Eine Sonderform des Zwergwuchses bei bereits intrauterinem Wachstumsrückstand. Mschr. Kinderheilk.113, 696 (1965).
Gropp, A., Flatz, G.: Chromosome breakage and Blastic Transformation of Lymphocytes in ataxia teleangiectasiea. Humangenetik5, 77 (1967).
Grouchy, de J.: Genetic diseases, chromosome rearrangement and malignancy (editorial). Ann. intern. Med.65, 602 (1966).
Hampel, K. E., Kober, B., Rösch, D., Gerhartz, H., Meinig, K. H.: The action of cytostatic agents on the chromosomes of human leucocytes in vitro (preliminary comm.). Blood27, 816 (1966).
Hecht, F., Koler, R. D., Rigas, D. A., Dahnke, G. S., Case, M. P., Tisdale, V., Miller, R. W.: Leukaemia and lymphocytes in ataxia-teleangiectasia. Lancet1966II, 1193.
Jacobs, J. C., Blanc, W. A., Capoa, A. de, Heird, W. C., McGilvray, E., Miller, O. J., Morse, J. H., Rossen, R. D., Schullinger, J. N., Walzer, R. A.: Complement deficiency and chromosomal breaks in a case of Swiss-type agammaglobulinaemia. Lancet1968I, 499.
Löhr, G. W., Waller, H. D., Anschütz, F., Knopp, A.: Biochemische Defekte in den Blutzellen bei familiärer Panmyelopathie (Typ Fanconi). Humangenetik1, 383 (1965).
Marsch, W., Niederalt, G., Gropp, A.: Chromosomenanomalien nach Strahlenbelastung. Dtsch. med. Wschr.90, 2205 (1965).
Mella, B.: Chromosomal damage associated with infectious hepatitis and its possible teratogenic significance. Neurology (Minneap.)8, 741 (1968).
Moorhead, P. S., Nowell, P. G., Mellman, W. J., Battips, W. J., Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res.20, 613 (1960).
Nielson, J., Friedrich, U., Jacobsen, E., Tsuboi, T.: Lysergide and chromosome abnormalities. Brit. med. J.1968II, 801.
Perkins, J., Timson, J., Emery, E. H.: Clinical and chromosome studies in Fanconi's anaemia. J. med. Genet.6, 28 (1969).
Reister, C. H. C., Scherz, M. R. G.: Silver syndrome. Amer. J. Dis. Child.107, 410 (1964).
Rossier, A.: Nanisme „intra-uterin“ avec dysostose craniofacio-mandibulaire. Arch. franç. Pédiat.19, 561 (1962).
Sawitzky, A., Bloom, D., German, J.: Chromosomal breakage and acute leukemia in congenital teleangiecstatic erythema and stunted growth. Ann. intern. Med.65, 487 (1966).
Schröder, T. M., Anschütz, F., Knopp, A.: Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik1, 194 (1964).
—— Cytogenetischer Befund und Ätiologie bei Fanconi-Anämie. Ein Fall von Fanconi-Anämie ohne Hexokinasedefekt. Humangenetik3, 76 (1966).
Schumacher, G., Niederhoff, H.: Die Syndrome nach Russel und Silver. Beschreibung von zwei weiteren Kindern. Helv. paediat. Acta22, 404 (1967).
Silver, H. K.: Asymmetry, short stature and variations in sexual development. A syndrome of congenital malformations. Amer. J. Dis. Child.107, 459 (1964).
Sparkes, R. S., Melnyk, J., Bozzetti, L. P.: Chromosomal effect in vivo of exposure to lysergic acid diethylamide. Science160, 1343 (1968).
Stool, S., Cohen, P.: Silver's syndrome. Amer. J. Dis. Child.105, 199 (1963).
Sturelid, S., Kihlman, B. A.: Lysergic acid diethylamine and chromosome breakage. Hereditas62, 259 (1969).
Swift, M. R., Hirschhorn, K.: Fanconi's anemia. Interited susceptibility to chromosome breakage in various tissues. Ann. intern. Med.65, 496 (1966).
Szalay, G. C.: Pseudohydrocephalus in dwarfs: the Russel dwarf. J. Paediat.63, 622 (1963).
—— Intrauterine growth retardation versus silver's syndrome. J. Paediat.64, 234 (1964).
Therlander, H. E.: Intrauterine growth retardation. Amer. J. Dis. Child.103, 100 (1962).
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Ganner, E., Schwingshackl, A. Neigung zu Chromosomenbrüchen bei Russel-Syndrom. Klin Wochenschr 48, 629–632 (1970). https://doi.org/10.1007/BF01485398
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DOI: https://doi.org/10.1007/BF01485398