Skip to main content
Log in

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

A deletion of the Y chromosome at the distal portion of band q11 was found in 6 men with normal male habitus but with azoospermia. Five of them were found during a survey of 1170 subfertile males while the sixth was karyotyped because of slight bone abnormalities. These findings, together with a review of the literature, suggest that on the distal portion of the nonfluorescent segment of the long arm of the Y, factors are located controlling spermatogenesis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Bobrow, M., Pearson, P. L., Pike, M. L., El-Alfi, O. S.: Length variation in the quinacrine binding segment of human Y chromosomes of different size. Cytogenetics 10, 190–198 (1971)

    PubMed  Google Scholar 

  • Borgaonkar, D. S., Hollander, D. H.: Quinacrine fluorescence of the human Y chromosome. Nature (Lond.) 230, 52 (1971)

    Google Scholar 

  • Bühler, E. M., Bühler, U. K., Tsuchimoto, T., Stalder, G. R.: Non-fluorescent Y chromosome. Helv. paediat. Acta 29, 447–456 (1974)

    PubMed  Google Scholar 

  • Bühler, E. M., Müller, H., Stalder, G. R., Werder, E.: A strongly fluorescing abnormal chromosome in a malformed child. Humangenetik 12, 64–66 (1971)

    PubMed  Google Scholar 

  • Caspersson, T., Hultén, M., Jonasson, J., Lindsten, J., Therkelsen, A., Zech, L.: Translocations causing non-fluorescent Y chromosome in human XO/XY mosaics. Hereditas (Lund) 68, 317–324 (1971)

    Google Scholar 

  • Chandley, A. C., Edmond, P.: Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics 10, 295–304 (1971)

    PubMed  Google Scholar 

  • Fraccaro, M., Lindsten, J.: The nature, origin, and genetic implications of structural abnormalities of the sex chromosomes in man. In: Symp. of the Intern. Soc. for Cell Biology, Vol. 3, pp. 97–110. New York: Academic Press 1964

    Google Scholar 

  • German, J., Simpson, J. L., McLemore, G. A., Jr.: Abnormalities of human sex chromosomes. I. A ring without mosaicism. Ann. Génét. 16, 225–231 (1973)

    Google Scholar 

  • Gerald, P. S., Walzer, S.: Chromosome studies on normal newborn infants. Human population cytogenetics, 1st ed., 1970 (eds. P. A. Jacobs, W. H. Price, Law), pp. 143–151. Edinburgh: Edinburgh University Press 1970

    Google Scholar 

  • Grouchy, J. de, Lasserre, J., Maraud, R., Soza, P., Broustet, A.: Mosaïque XO/XY dans un cas de dysgénésie gonadique mixte. Ann. Génét. 9, 127–131 (1966)

    Google Scholar 

  • Hamerton, J. L., Canning, N., Ray, M., Smith, S.: A cytogenetic survey of 14069 newborn infants. I. Incidence of chromosome abnormalities. Clin. Genet. 8, 223–243 (1975)

    PubMed  Google Scholar 

  • Hsu, L. Y. F., Kim, H. J., Paciuc, S., Steinfeld, L., Hirschhorn, K.: Non-fluorescent and non-heterochromatic Y chromosome in 45,X/46,XY mosaicism. Ann. Génét. 17, 5–9 (1974)

    Google Scholar 

  • Jacobs, P. A., Ross, A.: Structural abnormalities of the Y chromosome in man. Nature (Lond.) 210, 352–354 (1966)

    Google Scholar 

  • Krmpotic, E., Szego, K., Modestas, R., Molabola, G. B.: Localization of male determining factor on short arm of Y chromosome. Case report of a baby with 46,X,t(Yp+;14q-). Clin. Genet. 3, 381–387 (1972)

    PubMed  Google Scholar 

  • Laberge, C., Gagné, R.: Quinacrine mustard staining solves the length variations of the human Y chromosome. Johns Hopk. Med. J. 128, 79–83 (1971)

    Google Scholar 

  • Langmaid, H., Laurence, K. M.: Deletion of the long arm of the Y chromosome with normal male development and intelligence. J. med. Genet. 11, 208–211 (1974)

    PubMed  Google Scholar 

  • Lo Curto, F., Scappaticci, S., Zuffardi, O., Chierichetti, G., Fraccaro, M.: Non fluorescent Y chromosome in a 45,X/46,XY mosaicism. Ann. Génét. 15, 107–110 (1972)

    Google Scholar 

  • Meisner, L. F., Inhorn, S. L.: Normal male development with Y chromosome long arm deletion (Yq-). J. med. Genet. 9, 373–377 (1972)

    PubMed  Google Scholar 

  • Muldal, S., Ockey, C. H.: Deletion of Y chromosome in a family with muscular dystrophy and hypospadias. Brit. med. J. 1962 I, 291–294

    Google Scholar 

  • Müller, Hj., Klinger, H. P., Glasser, M.: Chromosome polymorphism in a human newborn population. II. Potentials of polymorphic chromosome variants for chracterizing the idiogram of an individual. Cytogenet. Cell Genet. 15, 239–255 (1975)

    PubMed  Google Scholar 

  • Nagakome, Y., Motomichi, S., Matsui, I., Kawazura, M., Fukuyana, Y.: A mentally retarded boy with a minute Y chromosome. J. Pediat. 67, 1163–1167 (1965)

    Google Scholar 

  • Pfeiffer, R. A., Scharfenberg, W., Büchner, Th., Stolecke, H.: Ring-Chromosomen und zentrische Fragmente bei Turner-Syndrom. Geburtsh. u. Frauenheilk. 28, 12–26 (1968)

    Google Scholar 

  • Robinson, J. A., Buckton, K. E.: Quinacrine fluorescence of variant and abnormal human Y chromosome. Chromosoma (Berl.) 35, 342–352 (1971)

    Google Scholar 

  • Schnedl, W.: Fluoreszenzuntersuchungen über die Längenvariabilität des Y-Chromosomes beim Menschen. Humangenetik 12, 188–194 (1971)

    PubMed  Google Scholar 

  • Siebers, J. W., Vogel, W.: Structural aberrations of the Y chromosome and the corresponding phenotype. Humangenetik 19, 57–66 (1973)

    PubMed  Google Scholar 

  • Soudek, D., Langmuir, V., Stewart, D. J.: Variation in the nonfluorescent segment of long Y chromosome. Humangenetik 18, 285–290 (1973)

    PubMed  Google Scholar 

  • Surana, R. B., Forbath, P., Conen, P. E.: Minute Y chromosome. Ann. Génét. 14, 145–148 (1971)

    Google Scholar 

  • Tan To, M., Kobernick, D.: X″y″/XO mosaicism in a phenotypic intersex. Amer. J. clin. Path. 3, 251–255 (1965)

    Google Scholar 

  • Telfer, M., Baker, D., Rollin, I.: Probable long-arm deletion of Y chromosome in boy of short statute. Lancet 1973 I, 608

  • Wachtel, S. S., Ohno, S., Koo, G. L., Boyse, E. A.: Possible role for H-Y antigen in the primary determination of sex. Nature (Lond.) 257, 235–236 (1975)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tiepolo, L., Zuffardi, O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm. Hum. Genet. 34, 119–124 (1976). https://doi.org/10.1007/BF00278879

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00278879

Keywords

Navigation