Summary
Chromosome preparations from seven subjects with aberrations of sex chromosomes were utilized for in situ hybridization studies with the tritium-labeled Y-derived probe p50f. Two subjects had a pseudodicentric chromosome consisting of two copies of Yp and a portion of Y long arm; two were XX males [46,XX,t(Xp;Yp)], one was missing part of the Y short arm, and another had t(5p;Yq); in addition cells from an XYY male as well as a normal 46,XY male, and a 46,XX female, were hybridized with the same probe. The hybridization technique of Harper and Saunders (1981) was used. There was excess labeling of the Yp/paracentromeric regions in the cases with the normal Y, the XYY, the pseudodicentric Y, and the 5/Y translocation. No significant label was seen on metaphases from the normal 46,XX female or the female with the partially missing Y short arm. Excess label was present on the X short arm in the cases of the XX males; there were 8% and 9.5% of cells with label. The combined cytogenetic and hybridization data indicate that one X short arm in these XX males has undergone a translocation with Yp, and that genes for sex determination probably reside on the distal half of the Y short arm.
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References
Affara NA, Ferguson-Smith MA, Tolmie J, Kwok K, Mitchell M, Jamieson D, Cooke A, Florentin L (1986) Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res 14:5375–5387
Bishop C, Guellaen G, Geldwerth D, Fellous M, Weissenbach J (1984) Extensive sequence homologies between Y and other human chromosomes. J Mol Biol 173:403–417
Bühler EM (1980) A synopsis of the human Y chromosome. Hum Genet 55:145–175
Davis RM (1981) Localization of male-determining factors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet 18:161–195
de la Chapelle A (1981) The etiology of maleness in XX men. Hum Genet 58:105–116
de la Chapelle A, Hortling H, Niemi M, Wennstrom J (1964) XX sex chromosomes in a human male: first case. Acta Med Scand [Suppl] 412:25–38
de la Chapelle A, Tippett PA, Wetterstrand G, Page D (1984) Genetic evidence of X-Y interchange in a human XX male. Nature 307: 170–171
Evans HJ, Buckton KE, Spowart G, Carothers AD (1979) Heteromorphic X chromosomes in 46, XX males: evidence for the involvement of X-Y interchange. Hum Genet 49:11–31
Ferguson-Smith MA (1966) X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet II:475–476
Ford CE, Jones KW, Polani PE, de Almeida JC, Brigg JH (1959) A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet I:711–713
Guellaen G, Casanova M, Bishop C, Geldworth D, Andre G, Fellous M, Weissenbach J (1984) Human XX males with Y single-copy DNA fragments. Nature 307:172–173
Harnden DG, Stewart JS (1959) The chromosomes in a case of pure gonadal dysgenesis. Br Med J 2:1285–1287
Harper ME, Saunders GF (1981) Localization of single copy DNA sequences of G-banded chromosomes by in situ hybridization. Chromosoma 83:431–439
Jacobs PA, Strong JA (1959) A case of intersexuality having a possible XXY sex-determining mechanism. Nature 183:302–303
Madan K, Walker S (1974) Possible evidence for Xp+ in XX male. Lancet I:1223
Magenis E, Donlon T (1982) Nonfluorescent Y chromosomes. Cytologic evidence of origin. Hum Genet 60:133–138
Magenis RE, Webb MJ, McKean RS, Tomar D, Allen LJ, Kammer H, VanDyke DL, Lovrien E (1982) Translocation (X;Y)(p22.33; p11.2) in XX males: etiology of male phenotype. Hum Genet 62: 271–276
Magenis RE, Tochen ML, Holahan KP, Carey T, Allen L, Brown MG (1984) Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants. J Pediatr 105:916–919
Magenis RE, Brown MG, Donlon T, Olson SB, Sheehy RR, Tomar D (1985) Structural aberrations of the Y chromosome, including the nonfluorescent Y: cytologic origin and consequences in the Y chromosome, pt A: Basic characteristics of the Y chromosome. (Progress and topics in cytogenetics, vol 6A) Liss, New York
Page DC, de la Chapelle A, Weissenbach J (1985) Chromosome Y-specific DNA in related human XX males. Nature 315:224–226
Rogers AW (1967) Techniques of autoradiography. Elsevier, New York Amsterdam, pp 49–67
Rosenfeld RG, Luzzatti L, Hintz RL, Miller OJ, Koo GG, Wachtel SS (1979) Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp-phenotypic female. Am J Hum Genet 31:458–468
Rouyer F, Simmler M-C, Johnsson C, Vergnaud G, Cooke JH, Weissenbach J (1986) A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 319:291–295
Schweizer D (1980) Simultaneous fluorescent staining of R-bands and specific heterochromatic regions (DA-DAPI bands) in human chromosomes. Cytogenet Cell Genet 27:190–193
Wachtel SS, Koo GC, Breg WR, Thaler HT, Dillard GM, Rosenthal IM, Dosik H, Gerald PS, Saenger P, New M, Lieber E, Miller OJ (1976) Serologic detection of a Y-linked gene in XX males and XX true hermaphrodites. N Engl J Med 295:750–754
Yunis JJ (1976) High resolution of human chromosomes. Science 191: 1268–1279
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Magenis, R.E., Casanova, M., Fellous, M. et al. Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet 75, 228–233 (1987). https://doi.org/10.1007/BF00281064
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DOI: https://doi.org/10.1007/BF00281064