Summary
A phenotypically normal male with azoospermia was found to have a translocation between the short arm of the Y chromosome and the distal long arm of a chromosome 4. By cytogenetic analysis it could not be determined whether the translocation was reciprocal, nor whether it was balanced. In situ DNA hybridization with two pseudoautosomal and one Y-specific probe demonstrated that the breakpoint was on distal Yp and that there was Y chromosome material on 4q. Thus the translocation was reciprocal and could be characterized as t(Y;4)(pll;q32). There was no evidence for loss of Y-DNA sequences as judged by Southern blotting with Y-DNA probes. Thus the translocation may be balanced. We conclude that DNA hybridization can be used to refine considerably the cytogenetic analysis of such translocations.
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References
Andersson M, Page DC, Chapelle A de la (1986) Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science 233:786–788
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
Chandley AC, Speed RM, McBeath S, Hargreave TB (1986) A human 9;20 reciprocal translocation associated with male infertility analyzed at prophase and metaphase I of meiosis. Cytogenet Cell Genet 41:145–153
Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, Graham J, Thuline H, Page DC, Fellous M (1986) Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci USA 83:7841–7844
Evans JA, Canning N, Hunter AGW, Martsolf JT, Ray M, Thompson DR, Hamerton JL (1978) A cytogenetic survey of 14,069 newborn infants. III. An analysis of the significance and cytologic behaviour of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet 20:96–123
Francke U (1981) High-resolution ideograms of trypsin-Giemsa banded human chromosomes. Cytogenet Cell Genet 31:24–32
Fryns JP, Kleczkowska A, Berghe H van den (1985) Clinical manifestations of Y/autosome translocations in man. In: Sandberg AA (ed) The Y chromosome, B: Clinical aspects of Y chromosome abnormalities. Liss, New York, pp 213–243
Geldwerth D, Bishop C, Guellaen G, Koenig M, Vergnaud G, Mandel J-L, Weissenbach J (1985) Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. EMBO J 4:1739–1743
Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, Fellous M, Weissenbach J (1984) Human XX males with Y single-copy DNA fragments. Nature 307:172–173
Human Gene Mapping 8 (1985) 8th International Workshop on Human Gene Mapping. Cytogenet Cell Genet 40, nos 1–4
ISCN (1985) An International System for Human Cytogenetic Nomenclature. Report of the Standing Committee on Human Cytogenetic Nomenclature. Karger, Basel
Jacobs PA, Frackiewicz A, Law P, Hilditch CJ, Morton NE (1975) The effect of structural aberrations of the chromosomes on reproductive fitness in man. II. Results. Clin Genet 8:169–178
Page DC (1986) Sex reversal: deletion mapping the male-determining function of the human Y chromosome. Cold Spring Harbor Symp Quant Biol 51:229–235
Page DC, Chapelle A de la (1984) The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am J Hum Genet 36:565–575
Page DC, Bieker K, Brown LG, Hinton S, Leppert M, Lalouel J-M, Lathrop M, Nyström-Lahti M, Chapelle A de la, White R (in press) Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics
Popescu NC, Amsbaugh SC, Swan DC, DiPaolo JA (1985) Induction of chromosome banding by trypsin/EDTA for gene mapping by in situ hybridization. Cytogenet Cell Genet 39:73–74
Simmler M-C, Royer F, Vergnaud G, Nyström-Lahti M, Ngo KY, Chapelle A de la, Weissenbach J (1985) Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature 317:692–697
Smith A, Fraser IS, Elliot G (1979) An infertile male with balanced Y;19 translocation. Review of Y;autosome translocations. Ann Genet 22:189–194
Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent protion of the human Y chromosome long arm. Hum Genet 34:119–124
Vergnaud G, Page DC, Simmler M-C, Brown L, Rouyer F, Noel B, Botstein D, Chapelle A de la, Weissenbach J (1986) A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 38:109–124
Wolfe J, Darling S, Erickson R, Craig I, Buckle V, Rigby P, Willard H, Goodfellow P (1985) Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 182:477–485
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Andersson, M., Page, D.C., Brown, L.G. et al. Characterization of a (Y;4) translocation by DNA hybridization. Hum Genet 78, 377–381 (1988). https://doi.org/10.1007/BF00291741
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DOI: https://doi.org/10.1007/BF00291741