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Yq deletion, aspermia, and short stature

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Summary

A large Yq deletion involving both the fluorescent and part of the non-fluorescent segment in a 36-year-old phenotypic normal male is presented. His short stature and aspermia gives strong support, after a complete review of the literature, to the existence of factors involved in the control of both characteristics in the non-fluorescent segment of the long arm of chromosome Y, distally within band 11.

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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 

  • Böök, J. A., Batia, E., Halbrecht, I., Komlos, L., Shabtan, F.: Isochromosome Y [46,X,i(Yq)] and female phenotype. Clin. Genet. 4, 410–414 (1973)

    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 

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

    PubMed  Google Scholar 

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

    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 

  • 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 dermining 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 

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

    PubMed  Google Scholar 

  • Lo, M., Kobernick, S. T.: X“y”/XO mosaicism in a phenotypic intersex. Amer. J. Clin. Path. 43, 251–255 (1965)

    Google Scholar 

  • Maeda, T., Ohno, M., Ishibashi, A., Samejima, M., Sasaki, M.: Ring Y chromosome: 45,X/46,X,r(Y) chromosome mosaicism in a phenotypically normal male with azoospermia. Hum. Genet. 34, 99–102 (1976)

    PubMed  Google Scholar 

  • Meisner, L. F., Inhorn, S. L.: Normal male development with Y chromosome long arm deletion (Yq-). J. med. Genet. 34, 99–102 (1972)

    Google Scholar 

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

  • Nakagome, Y., Motomichi, S., Matsui, Kawazura, M., Fukuyama, Y.: A mentally retarded boy with a minute Y chromosome. The J. of Pediatrics 67, 1163–1167 (1965)

    Google Scholar 

  • Neu, R. L., Barlow, M. J., Gardner, L. I.: A 46,XYq- male with aspermia. Fertility and Sterility. 24, 811–813 (1973)

    PubMed  Google Scholar 

  • Summer, A. T., Evans, H. J., Buckland, R. A.: New technique for distinguishing between human chromosomes. Nature (New Biol.) 232, 31–32 (1971)

    Google Scholar 

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

    Google Scholar 

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

  • 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)

    PubMed  Google Scholar 

  • Vaharu, T., Patton, R. G., Voorhess, M. L., Gardner, L. I.: Gonadal dysplasia and enlarged phallus in a girl with 45 chromosomes plus “fragment.”. Lancet 1961 I, 1351

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Yunis, E., García-Conti, F.L., Torres de Caballero, O.M. et al. Yq deletion, aspermia, and short stature. Hum Genet 39, 117–122 (1977). https://doi.org/10.1007/BF00273161

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  • DOI: https://doi.org/10.1007/BF00273161

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