Summary
A 12-year-old girl with small stature and a hypertrophic clitoris was found to be mosaic for 45,X/46,X.dic(Y)(qter»p11:p11»qter)/46,XX/47, XX,dic(Y)(qter»p11:raqter). The dicentric chromosome was identified using Q-banding. These findings indicate mitotic instability of the dicentric Y, as well as the presence of an X chromosome in this patient.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Buchanan, P. D., Wyandt, H. E., D'Ercole, A. J., Rao, K. W., Harstell, M. L.: A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite. Cytogenet. Cell Genet. 17, 42–50 (1976)
Caspersson, T., Zech, L., Johansson, C.: Analysis of the human metaphase chromosome set by aid of DNA-binding fluorescent agents. Exp. Cell Res. 62, 490–492 (1970)
Hayek, A., Yunis, E.: Dicentric Y chromosome in mixed gonadal dysgenesis. J. Med. Genet. 12, 210–212 (1975)
Jalbert, P., Convert, A., Mouriquand, C., Malka, J.: A propos d'une observation d'Y dicentrique chez un pseudo-hermaphrodite masculin avec mosaique gonosomale complexe. Ann. Genet. 12, 253–258 (1969)
Kerr, J. M., Hsu, L. Y. F., Workman, P., Hirschhorn, K.: Total finger ridge count and 45,X mosaicism (with and without Y chromosome). Clin. Genet. 5, 68–71 (1974)
King, C. R., Cook, D. M.: Bilateral gonadoblastoma in a phenotypic female with 45,X/46,X, dicentric iso Y [45,X/46,X,idic(Yq)] mosaicism. Birth Defects: Original Article Series, Vol. VIV, No. 6C, pp. 109–122 (1978)
La Marche, P. H., Heisler, A. B., Kronemer, N. S.: Disappearing mosaicism. R. I. Med. J. 50, 184–189 (1967)
Nue, R. L., Bargman, G. J., Gardner, L. I.: Disappearance of a 47,XX,,C+leucocyte cell line in an infant who had previously exhibited 46,XX/47,XX,C+ mosaicism. Pediatrics 43, 623–625 (1969)
Roubin, M., de Grouchy, J., Chaveau, P., Rappaport, R., Pellerin, D.: Chromosome Y dicentrique chez un pseudo-hermaphrodite masculin, (45,X/46,dic(Y)/47,XYY). Ann. Genet. 20, 185–189 (1977)
Schmid, W., D'Apuzzo, V.: Centromere inactivation in a case of Turner variant with two dicentric iso-long arm Y chromosomes. Hum. Genet. 41, 217–223 (1978)
Taylor, A. I.: Cell selection in vivo in normal/G trisomic mosaics. Nature 219, 1028–1030 (1968)
Taylor, M. C., Gardner, H. A., Ezrin, C.: Isochromosome for the long arm of the Y in an infertile male. Hum. Genet. 40, 227–230 (1978)
Taysi, K., Kohn, G., Mellman, W. J.: Mosaic mongolism II. Cytogenetic studies. J. Pediatr. 76, 880–885 (1970)
Telfer, M., Baker, D., Rollin, I.: Probable long-arm deletion of Y chromosome in boy of short stature. Lancet 1968I, 608
Tuncbileck, E., Halicioglu, C., Bobrow, M., Ustay, K.: 45,X0/46,XYqdic mosaicism in a patient with ambiguous genitalia. Clin. Genet. 9, 365–370 (1976)
Yunis, J. J.: Human chromosome methodology, p. 187. New York: Academic Press 1965
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
de Chieri, P.R., Hirschhorn, K. Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy. Hum Genet 52, 149–152 (1979). https://doi.org/10.1007/BF00284610
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00284610