Summary
This is the report on an obese girl with small stature and sexual infantilism. A 45,X/46,XYq dic mosaic was found in blood and fibroblast cultures. A summary is given of the cases so far reported in the literature. The clinical picture does not differ significantly from that of 45,X/46,XY cases. The relationship of phenotype and structural abnormalities of the Y chromosome is discussed.
Zusammenfassung
Es wird über eine Patientin mit Kleinwuchs, Adipositas und sexuellem Infantilismus berichtet. Die Abklärung ergab ein 45,X/46,XYq dic-Mosaik. Es folgt eine Zusammenfassung der bis jetzt in der Literatur beschriebenen Fälle von Ydic. Das klinische Bild unterscheidet sich nicht wesentlich von jenem des 45,X/46,XY-Mosaiks. Anschließend werden die Zusammenhänge zwischen strukturellen Aberrationen des Y-Chromosoms und Phänotypus diskutiert.
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Literatur
Angell, R., Giannelli, F., Polani, P. E.: Three dicentric Y-chromosomes. Ann. hum. Genet. 34, 39–50 (1970)
Armendares, S., Buentello, L., Salamanca, F., Cantu-Garza, J. M.: A dicentric Y-chromosome without evidence of sexchromosomal mosaicism, 46,XYq dic, in a patient with features of Turner's syndrom. J. med. Genet. 9, 96–131 (1972)
Böök, J. A., Eilon, B., Halbrecht, I., Komlos, L., Shabtay F.: Isochromosome Y 46,X,i(Yq) and female phenotype. Clin. Genet. 4, 411–414 (1973)
Boschetti, R., Gilbertas, A., Noel, B., Quack, B.: Pseudohermaphrodisme masculin et mosaique 46,X/46,XYdic/46,XXq-. Ann. Génét. 11, 62–65 (1968)
Bühler, E. M., Frey, R., Müller, H., Voegelin, M., Stalder, G. R.: Fluorescence pattern of a dicentric Y. Humangenetik 12, 170–172 (1971a)
Bühler, E. M., Müller, H., Stalder, G. R.: Heterochromatin, Fluoreszenz und Struktur-Anomalien des Y-Chromosoms. Arch. Genet. 45, 27–34 (1972)
Bühler, E. M., Müller, H., Stalder, G. R., Werder, E.: A strongly fluorescing abnormal chromosome in a malformed child. Humangenetik 12, 64–66 (1971b)
Caspersson, T., Farber, S., Foley, G. E., Kudynowski, J., Modest, E. J., Simonsson, E., Wagh, U., Zech, L.: Chemical differentiation along metaphase chromosomes. Exp. Cell Res. 49, 219–222 (1968)
Caspersson, T., Zech, L., Johansson, C.: Differential binding of alkylating fluorochromes in human chromosomes. Exp. Cell Res. 60, 315–319 (1970)
Conen, P. E., Bailey, J. D., Allemang, W. H., Thompson, D. W., Ezrin, C.: A probable partial deletion of the Y-chromosome in an intersex patient. Lancet 1961 II, 294–295
De la Chapelle, A., Wennström, J., Hortling, H., Ockey, C. H.: Isochromosome-X in man, Part I. Hereditas (Lund) 54, 260–276 (1966)
Ferguson-Smith, M. A.: Karyotype-phenotype correlations in gonadal dysgenesis and their bearings on the pathogenesis of malformations. J. med. Genet. 2, 142–155 (1965)
Ferguson-Smith, M. A., Boyd, E., Ferguson-Smith, M. E., Pritchard, J. G., Yusuf, A. F. M., Gray, B.: Isochromosome for long arm of Y chromosome in patient with Turner's syndrom and sex chromosome mosaicism (45,X/46,XYqi). J. med. Genet. 6, 422–425 (1969)
Ferrier, P. E., Ferrier, S. A., Bill, A. H.: A male pseudohermaphrodite with a dicentric Y-chromosome. Humangenetik 6, 131–141 (1968)
Hirschhorn, K., Decker, W. H., Cooper, H. L.: Human intersex with chromosome mosaicism of type XY/X0. New Engl. J. Med. 263, 1044 (1960)
Jacobs, P. A., Ross, A.: Structural abnormalities of the Y-chromosome in man. Nature (Lond.) 210, 352–354 (1966)
Jalbert, P., Couvert, A., Mouriquand, C., Malka, J.: A propos d'une observation d'Y dicentrique chez un pseudohermaphrodite masculin avec mosaique gonosomale complexe. Ann. Génét. 12, 253–258 (1969)
Mc Jlree, M. E. Price, W. H., Court-Brown, W. M., Tulloch, W. S., Newsam, J. E., Maclean, N.: Chromosome studies on testioular cells from 50 subfertile men. Lancet 1966 II, 69–71
Nars, P. W., Bühler E. M. Das XO/XY Geschlechtschromosomen-Mosaik. Humangenetik 7, 185–196 (1969)
Pearson, P. L., Bobrow, M.: Definitive evidence for the short arm of the Y-chromosome associating with the X-chromosome during meiosis in the human male. Nature (Lond.) 226, 959–961 (1970)
Siebers, J. W., Vogel, W., Hepp, H., Dittrich, A., Bolze, H.: Structural aberrations of the Y-chromosome and the corresponding phenotype. Report of a case with karyotype 45,X/46,X,i(Yp). Humangenetik 19, 57–66 (1973)
Starkman, M. N., Jaffé, R. B.: Chromosome aberrations in XO/XY mosaic individuals and their fathers. Amer. J. Obstet. Gynec. 99, 1056–1066 (1967)
Yosa, C. G.: Heterochromatin recognition with fluorochromes. Chromosoma (Berl.) 30, 366–372 (1970)
Ying, K. L., Ives, E. J.: Mitotic behaviour of a human dicentric Y-chromosome. Cytogenetics 10, 208–218 (1971)
Yunis, J. J.: Human chromosome methodology, p. 187. New York-London: Academic Press 1965
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Frey, R.O., Bühler, E.M., Bühler, U.K. et al. 45,X/46,XYq dic-Geschlechtschromosomenmosaik. Hum Genet 27, 81–90 (1975). https://doi.org/10.1007/BF00273323
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DOI: https://doi.org/10.1007/BF00273323