Summary
The Robertsonian translocation 45,X,t(Y;15q) was detected in four generations of male progeny. The karyotypes were studied by G-, Q-, and C-banding techniques. The chromosome Y involved in this translocation was of a “short”, “nonfluorescent” variant. The normal male phenotypes in all three adult translocation carriers (the great grandfather, the grandfather, and the father) support the hypothesis that the locus for the male determining factor is on the short arm of the chromosome Y.
Zusammenfassung
Eine Robertsonsche Translokation 45,X,t(Y;15q) wurde in vier Generationen der männlichen Linie entdeckt. Die Karyotypen wurden mittels der G-, R- und C-Banding-Techniken untersucht. Das in diese Translokation verwickelte Y-Chromosom gehörte zu der “kurzen”, nichtfluorescierenden Variante. Alle Translokationsträger aus vier Generationen hatten einen normalen männlichen Phänotyp. Dadurch wird die Hypothese bestätigt, daß der Locus für den die Männlichkeit bestimmenden Faktor auf dem kurzen Arm des Y-Chromosoms gelegen ist.
References
Van den Berghe, H., Steeno, O., Verresen, H., Moor de, P.: Hypogonadism associated with chromosomal break in autosome no. 2 and translocation presumably on the Y chromosome. J. clin. Endocr. 25, 1246–1250 (1965)
Bühler, E. M., Müller, H., Stalder, G. R.: Further evidence for the localization of the male determining factors on the short arm of the Y chromsome. Cit. by Krmpotic et al.
Develing, A. J., Conte, F. A., Epstein, C. J.: A Y-autosome translocation 46,X,t(Yq-;7q+) associated with multiple congenital anomalies. J. Pediat. 82, 495–498 (1973)
Federman, D. D., Davidoff, F. M., Ouellette, E.: Presumptive Y/D translocation in mixed gonadal dysgenesis. J. med. Genet. 4, 36–40 (1967)
Frias de Sa, M. C., Silveira, L.: A case of primary amenorrhea with probable Y/D translocation. Rev. ibér. Endocr. 15, 423–429 (1968)
Friedrich, U., Nielsen, J.: Presumptive Y-15 and Y-22 translocation in two families. Hereditas (Lund) 71, 339–342 (1972)
Fründ, S., Koske-Westphal, Th., Fuchs-Mecke, S., Passarge, E.: Quinacrine mustard fluorescence of a second Y chromosome in a Y-autosomal translocation. Humangenetik 14, 133–136 (1972)
Genest, P., Laberge, Cl., Poty, J., Gagné, R., Bouchard, M.: Transmission d'un petit “Y” durant onze générations dans une lignée familiale. Ann. Génét. 13, 233–238 (1970)
Jacobs, P. A., Ross, A.: Structural abnormalities of the Y chromosome in man. Nature (Lond.) 210, I, 352–354 (1966)
Krmpotic, E., Szego, K., Modestas, R., Molabola, G. B.: Localization of male determining factor on short arm of Y chromosome. Clin. Genet. 3, 381–387 (1972)
Lundsteen, C., Philipp, J.: Y/22 translocation in A YY male. Cytogenet. Cell Genet. 12, 53–59 (1973)
Nakagome, Y. H., Smith, D., Soukup, S. W.: A presumptive Y-autosome translocation in a boy with congenital malformations. Amer. J. Dis. Child. 116, 205–210 (1968)
Noël, B., Emerit, I., Luciani, J. M., Quack, B.: A familial Y-autosome translocation in man. Clin. Genet. 2, 1–16 (1971)
Pfeiffer, R. A., Bier, L., Majewski, F., Rager, K.: De novo translocation t(Yq-; 15p+) in a malformed boy. Humangenetik 19, 349–352 (1973)
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Šubrt, I., Blehová, B. Robertsonian translocation between the chromosome Y and 15. Hum Genet 23, 305–309 (1974). https://doi.org/10.1007/BF00272514
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DOI: https://doi.org/10.1007/BF00272514