Summary
Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.
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Almeida, J. de, Barcinski, M. A.: 45,X/46,X r(Y). A case of asymetrical testicular differentiation. Ann. Genet. (Paris) 17, 37–40 (1974)
Buehler, E. M., Tsuchimoto, T., Buehler, V. K., Stalder, G. R.: Eine seltene Strukturanomalie des Y-Chromosoms: Ring Y. Arch. Genet. (Zür.) 47, 52–59 (1974)
Chandley, A. C., Edmond, P.: Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics 10, 295–304 (1971)
German, J., Simpson, J. L., McLemore, G. A.: Abnormalities of human sex chromosomes: A ring Y without mosaïcism. Ann. Genet. (Paris) 16, 225–231 (1973)
Khudr, G., Benirschke, K.: Y ring chromosome associated with gonadoblastoma in situ. Obstet. Gynecol. 41, 897–901 (1973)
Maeda, T., Ohno, M., Ishibashi, A., Samejima, M., Sasaki, K.: Ring Y chromosome: 45,X/46,X r(Y) chromosome mosaïcism in a phenotypically normal male with azoospermia. Hum. Genet. 34, 99–102 (1976)
Ruthner, U., Golob, E.: 45,X/45,X,ace(?Yp)+46,X,r(Y) in a phenotypically normal newborn male. Humangenetik 22, 177–180 (1974)
Sarto, G. E., Optiz, J. M., Inhorn, S. L.: Human sex chromosome errors. In: Comparative mammalian cytogenetics, K. Benirschke, ed., pp. 390–413. New York: Springer 1969
Wilson, M. G., Stein, R. B., Towner, J. W.: Ring Y chromosome without mosaicism. Birth Defects, Orig. Art. Ser. 12, 105–112 (1976)
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Taillemite, J.L., van den Akker, J., Portnoi, M.F. et al. A case of ring Y chromosome. Hum Genet 42, 89–91 (1978). https://doi.org/10.1007/BF00291630
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DOI: https://doi.org/10.1007/BF00291630