Summary
Clinical and cytogenetic findings in three patients mosaic for sex chromosomes (45,X0/46,XY; 45,X0/46,XY/46,XYq-, and 45,X0/46,XY/46,XYY), each with a nonfluorescent Y, are presented. Hypotheses for the origin and effect of these chromosome constitutions are discussed.
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Angell, R., Gianelli, F., Polani, P. E.: Three dicentric Y chromosomes. Ann. Hum. Genet. 34, 39–50 (1970)
Berger, R., Relier, J. P., Salmon, Ch., Minkowski, A.: X/XY mosaicism with short Y. Clin. Genet. 5, 211–217 (1974)
Bobrow, M., Madan, K., Pearson, P. L.: Staining of some specific regions of human chromosomes, particularly the secondary constriction of no. 9. Nature New Biology 238, 122–124 (1972)
Breg, W. R., Genel, M., Wachtel, S., Koo, S. C., Miller, O. J.: H-Y (male)antigen determination in delineation of sex chromosome abnormalities. Pediatr. Res. 10, 363 (1976)
Bühler, E. M.: Fluorescence and Y translocation. Lancet 1971 II, 430
Bühler, E.: Clinical and cytological aspects of sex chromosome activity. Hereditas 86, 63–74 (1977)
Bühler, E. M., Bühler, U. K., Tsuchimoto, T., Stalder, G. R.: Non-fluorescent Y chromosome. Helv. Paediatr. Acta 29, 447–456 (1974)
Caspersson, T., Hultén, M., Jonasson, J., Lindsten, J., Therkelsen, A., Zech, L.: Translocation causing non-fluorescent Y-chromosomes in human XO/XY mosaics. Hereditas 68, 317–324 (1971)
Cohen, M. M., MacGillivray, M. H., Capraro, V. J., Aceto, T. A.: Human dicentric Y chromosomes. J. Med. Genet. 10, 74–79 (1973)
Cooke, H.: Repeated sequence specific to human males. Nature 262, 182–186 (1976)
Develing, A. J., Conte, F. A., Epstein, C. S.: A Y-autosome translocation 46,X,t(Yq-;7q+) associated with multiple congenital anomalies. J. Pediatr. 82, 495–498 (1973)
Edwards, J. H., Dent, T., Kahn, J.: Monozygotic twins of different sex. J. Med. Genet. 3, 117–123 (1966)
Fonatsch, C., Flatz, S. D., Freymann, R.: Non-fluorescent Y chromosome in a male with Turner's symptoms and XO/XY mosaicism. Clin. Genet. 11, 235–240 (1977)
Ford, C. E.: Cytogenetics and sex determination in man and mammals. J. Biosoc. Sci. Suppl. 2, 7–30 (1970)
Gerli, M., Biagioni, M., Bruschelli, G. M., Ferraresse, R., Rosi, G.: A case of true hermaphroditism with 45,X/46,XY mosaicism. Hum. Genet. 34, 93–97 (1976)
German, J.: Abnormalities of human sex chromosomes. V. A unifying concept in relation to gonadal dysgeneses. Clin. Genet. 1, 15–27 (1970)
Gosden, J. R., Mitchell, A. R., Buckland, R. A., Clayton, R. P., Evans, H. J.: The location of four human satellite DNA's on human chromosomes. Exp. Cell Res. 92, 148–158 (1975)
Hamerton, J. L.: Sex chromosomes and intersexuality in man. In: Human cytogenetics, Vol. II, Clinical cytogenetics, J. L. Hamerton. New York, London: Academic Press 1971
Hsu, L. Y. F., Kim, H. J., Hausknecht, R., Hirschhorn, K.: Prenatal diagnosis of 45,XO/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant. Clin. Genet. 10, 232–238 (1976)
Hsu, L. Y. F., Kim, H. J., Paciuc, S., Steinfeld, L., Hirschhorn, K.: Non-fluorescent and nonheterochromatic Y chromosome in 45,XO/46,XY mosaicism. Ann. Genet. (Paris) 17, 5–9 (1974)
Kaluzewski, B., Jokineu, A., Hortling, H., Capelle, A. de la: A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. Presentation of three cases. Ann. Genet. (Paris) 21, 5–11 (1978)
Kinross, J., Fraccaro, M., Scappaticci, S., Tiepolo, L., Zuffardi, O., Pawlowitzki, I. H., Jones, K. W.: BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities. Cytogenet. Cell Genet. 20, 59–69 (1978)
Koo, G. C., Wachtel, S. S., Breg, W. R., Miller, O. J.: Mapping the locus of the H-Y antigen. Cytogenet. Cell Genet. 16, 175–177 (1976)
Kunkel, L. M., Smith, K. D., Boyer, S. H.: Human Y chromosome specific reiterated DNA. Science 191, 1189–1190 (1976)
Kunkel, L. M., Smith, K. D., Boyer, S. H., Borgaonkar, D. S., Wachtel, S. S., Miller, O. J., Breg, W. R., Jones, H. W., Rary, J. M.: Analysis of human Y chromosome-specific reiterated DNA in chromosome variants. Proc. Natl. Acad. Sci. USA 74, 1245–1249 (1977)
Locurto, F., Scappaticci, S., Zuffardi, O., Chierichetti, G., Fraccaro, M.: Non-fluorescent Y chromosome in a 45,XO/46,XY mosaic. Ann. Genet. (Paris) 15, 107–110 (1972)
Madan, K.: New aspects of human chromosome polymorphism in No. 6 and No. 9. Clin. Genet. 14, 301 (1978)
Málková, J., Michalová, K., Chrz, R., Kobilková, J., Motlik, K., Stárka, L.: Dicentric Yp chromosome in a patient with gonadal dysgenesis and gonadoblastoma. Humangenetik 27, 251–253 (1975)
McKay, R. D. G., Bobrow, M., Cooke, H. J.: The identification of a repeated DNA sequence involved in the karyotype polymorphism of the human Y chromosome. Cytogenet. Cell Genet. 21, 19–32 (1978)
Miller, O. J., Koo, G. C., Wachtel, S. S., Breg, W. R.: The H-Y antigen and mammalian testicular differentiation. Paper presented at the Fifth International Congress of Human Genetics, Mexico City (1976)
Noël, B., Emerit, I., Luciani, J. M., Quack, B.: A familial Y autosome translocation in man. Clin. Genet. 2, 1–6 (1971)
Ohno, S.: A hormone-like action of H-Y antigen and gonadal development of XY/XX mosaic males and hermaphrodites. Hum. Genet. 35, 21–25 (1976)
Ohno, S.: Nagai, Y., Ciccarese, S.: Testicular cells lysostripped of H-Y antigen organize ovarian follicle-like aggregates. Cytogenet. Cell Genet. 20, 351–364 (1978)
Paris Conference 1971: Standardization in human cytogenetics. Birth Defects. Original Article Series, Vol. 8, No. 7. New York: The National Foundation 1972
Pearson, P. L., Bobrow, M., Vosa, C. G.: Technique for identifying Y chromosomes in human nuclei. Nature 226, 78–80 (1970)
Serra, A., Moneta, E., Patrono, V., Pizzolato, G.: A phenotypically Turner-like female with karyotype 45,X/46,XY gonadoblastoma and fluorescent Y. Humangenetik 24, 309–318 (1974)
Severi, F., Tiepolo, L., Scappaticci, S.: Identification of the Y chromosome by the fluorescence technique in an XY/XO gonadal dysgenesis. Acta Paediatr. Scand. 60, 716–719 (1971)
Stevenson, A. C., Bedford, J., Mitford-Barberton, G.: A patient with 45,X/46,XXq-/46,XXq-dic karyotype. J. Med. Genet. 8, 513–516 (1971)
Surana, R. B., Hunt, T. M., Conen, P. E.: Multiple congenital defects associated with 45,XO/46,XYq-mosaicism. Am. J. Dis. Child. 126, 75–77 (1973)
Takayasu, H., Isurugi, K., Kinoshita, K., Matsumoto, Y., Tonomura, A.: Mixed gonadal dysgenesis with Turner phenotype and XO/XYq- mosaicism. Jpn. J. Hum. Genet. 15, 103–113 (1970)
Teter, J., Boczkowski, K.: Occurrence of tumours in dysgenetic gonads. Cancer 20, 1301–1310 (1967)
Wachtel, S. S., Koo, G. C., Zuckerman, E. E., Hammerling, U., Scheid, M. P., Boyse, E. A.: Serological cross reactivity between H-Y (male) antigens of mouse and man. Proc. Natl. Acad. Sci. USA 71, 1215–1218 (1974)
Wolf, U.: Y chromosome and sexual differentiation. Clin. Genet. 14, 314 (1978)
Zech, L.: Investigation of metaphase chromosome with DNA-binding fluorochromes. Exp. Cell Res. 58, 463 (1969)
Zenzes, M. T., Wolf, U., Günther, W., Engel, W.: Studies on the function of H-Y antigen: dissociation and reorganization experiments on rat gonadal tissue. Cytogenet. Cell Genet. 20, 365–372 (1978)
Zuffardi, O., Tiepolo, L., Dolfini, S., Barigozzi, C., Fraccaro, M.: Changes in the fluorescence patterns of translocated Y chromosome segments in Drosophila melanogaster. Chromosoma (Berl.) 34, 274–280 (1971)
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Madan, K., Gooren, L. & Schoemaker, J. Three cases of sex chromosome mosaicism with a nonfluorescent Y. Hum Genet 46, 295–304 (1979). https://doi.org/10.1007/BF00273313
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DOI: https://doi.org/10.1007/BF00273313