Summary
the literature dealing with structural aberrations of the Y chromosome and their phenotypic effects is reviewed. A new observation of a patient with Turner's syndrome and the karyotype 45,X/46,X,i(Yp) reported here allows some conclusions on the problem of the localization of sex-determining factors on the Y chromosome. The comparative analysis of all these cases leads to the assumption that the genes for the initiation of testicular development are located on the proximal part of the long arm of the Y chromosome, while the genes responsible for the maturation of the testis are localized on the short arm of the Y chromosome.
Zusammenfassung
Strukturelle Aberrationen des Y-Chromosoms und ihre phänotypischen Auswirkungen werden an Hand der einschlägigen Literatur zusammenfassend diskutiert. Eine eigene Beobachtung eines Turner-Syndroms mit dem Chromosomenbefund 45,X/46,X,i(Yp) erlaubt Aussagen über die Lokalisation von Genen auf dem Y-Chromosom. Auf Grund der Literatur und unseres Falles wird die Annahme gemacht, daß für die Testisanlage zuständige Gene auf dem proximalen Teil des langen Armes des Y-Chromosoms liegen und daß Gene auf dem kurzen Arm des Y-Chromosoms für die Ausreifung der Testes verantwortlich sind.
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References
Angell, R., Gianelli, F., Polani, P. E.: Three dicentric Y chromosomes. Ann. hum. Genet. 34, 39–50 (1970).
Armendares, S., Buentello, L., Salamanca, F., Cantu-Garza, I. 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, 96–100 (1972).
Arrighi, F. E., Hsu, T. C.: Localisation of heterochromatin in human chromosome. Cytogenetics 10, 81–86 (1971).
Boczkowski, K.: Sex determination and gonadal differentiation in man. A unifying concept of normal and abnormal sex development. Clin. Genet. 2, 379–386 (1971).
Böving, B. G.: Anatomy of reproduction. Obstetrics (Greenhill, J. P., ed.) pp. 3–101. Philadelphia: Saunders 1970.
Borgaonkar, D. S., McKusick, V. A., Herr, H. M., de los Cobos, L., Yoder, O. C.: Constancy of the length of human Y chromosome. Ann. Génét. 12, 262–264 (1969).
Chandley, A., Chandley, C., Edmond, P.: Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics 10, 295–304 (1971).
Chapelle, A. de la, Schröder, J.: Isochromosome for the short arm of X, a human 46, XXpi syndrome. Ann. hum. Genet. 36, 79–87 (1972).
Chaudhuri, J. P., Vogel, W., Voiculescu, I., Wolf, U.: A simplified method of demonstrating Giemsa-band pattern in human chromosomes. Humangenetik 14, 83–84 (1971).
Cohen, M. M., Sandberg, A. A., Takagi, N., Mac Gillivray, M. H.: Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis. Cytogenetics 6, 254–267 (1967).
Ferguson-Smith, U. A.: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformation. Humangenetik 14, 83–84 (1971).
Ferguson-Smith, U. A., Boyd, E., Ferguson-Smith, U. E., Pritchard, J. G., Yusuf, A. F. M., Gray, B.: Isochromosome for long arm of Y chromosome in patient with Turner-syndrom and sex chromosome mosaicism 45,X/46,XY qi. J. med. Genet. 6, 422 (1969).
Ferrier, P. E., Ferrier, S. A., Bill, A. H.: A male pseudohermaphrodite with a dicentric Y chromosome. Humangenetik 6, 131–141 (1968).
Fraccaro, M., Scappeticci, S., Tiepolo, C., Turpini, R.: Identification of a structurally abnormal Y chromosome. Ann. Génét. 14, 53–55 (1971).
German, J.: Abnormalities of human sex chromosomes. V. A. unifying concept in relation to the gonadal dysgenesis. Clin. Genet. 1, 15–27 (1970).
Grace, H. J., Ally, F. E., Paruk, M. A.: 46,X inv(Yp+q-) in four generation of an Indian family. J. med. Genet. 9, 293 (1972).
McIlree, M. E., Price, W. H., Court-Brown, W. M., Tulloch, W. S., Newsam, J. E., Mac-Lean, N.: Chromosome studies on testicular cells from 50 subfertile men. Lancet 1966 II, 69–71.
Jacobs, P. A., Ross, A.: Structural abnormalities of the Y-chromosome in man. Nature (Lond.) 210, 352 (1966).
Meisner, L. F., Inhorn, L.: Normal male development with Y chromosome long arm deletion (Yq-). J. med. Genet. 9, 373 (1972).
Mikkelsen, M.: Identification of G group anomalies in Down's syndrome by quinacrine dihydroeloride fluorescence staining. Humangenetik 12, 67–73 (1971).
Nakagome, Y., Sasaki, M., Matusi, T., Kawatura, M., Fukuyama, Y.: A mentally retarded boy with a minute Y chromosome. J. Pediat. 67, 1163 (1965).
Neuhäuser, G., Back, F.: Zytogenetische Varianten des Ullrich-Turner-Syndroms. Med. Klin. 21, 836–841 (1968).
Nielsen, J., Friedrich, U.: A phenotypic male with karyotype 45,X/45,X,ace+(?Yq-). Humangenetik 15, 319 (1972).
Paris Conference: Standardization in Human Cytogenetics. Birth Defects: Original Article Series, VIII: 7. New York: The National Foundation 1972.
Pfeiffer, R. A., Scharfenberg, W., Büchner, Th., Stolecke, H.: Ring-Chromosomen und zentrische Fragmente bei Turner-Syndrom. Geburtsh. u. Frauenheilk. 28, 12–26 (1968).
Pfeiffer, R. A.: Kultivierung von Blut und Knochenmarkzellen. In: Methoden in der klinischen Cytogenetik. Schwarzacher, H. G., Wolf, U. (Hrsg.). Berlin-Heidelberg-New York: Springer 1970.
Robinson, J. A., Buckton, K. E.: Quinacrine fluorescence of variant and abnormal human Y chromosomes. Chromosoma (Berl.) 35, 342 (1971).
Schmid, W.: DNA replication patterns of human chromosomes. Cytogenetics 2, 175–193 (1963).
Schnedl, W.: Fluorescenzuntersuchungen über die Längenvariabilität des Y-Chromosoms beim Menschen. Hum. Genet. 12, 188–194 (1971).
Starkmann, M. N., Jaffe, R. B.: Chromosome aberrations in XO/XY mosaic individuals and their fathers. Amer. J. Obstet. Gynec. 99, 1056–1066 (1967).
Stoeckenius, M.: A probably Y isochromosome in father and son of tall structure. Lancet 1966 II, 391.
Surana, R. B., Forbath, P., Conen, P. E.: Minute Y chromosome. Ann. Génét. 14, 145 (1971).
Tan To, M., Kobernick, D.: X“y”/XO mosaicism in a phenotypic intersex. Amer. J. clin. Path. 3, 251–255 (1965).
Tishler, P. V., Lamborot-Manzur, M., Atkins, L.: Polymorphism of the human y chromosome: Fluorescence microscopic studies on the sites of morphologie variations. Clin. Genet. 3, 116–122 (1972).
Ying, K. L., Ives, E. J.: Mitotic behaviour of a human dicentric Y chromosome. Cytogenetic 10, 208 (1971).
Yunis, J. J.: Human chromosome methodology, p. 187. New York-London: Academic Press 1965.
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Siebers, J.W., Vogel, W., Hepp, H. et al. Structural aberrations of the Y chromosome and the corresponding phenotype. Hum Genet 19, 57–66 (1973). https://doi.org/10.1007/BF00295235
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DOI: https://doi.org/10.1007/BF00295235