Summary
A translocation of genetic material involving the long arm of the X chromosome and the heterochromatic portion of the Y chromosome is reported in a young woman. The phenotypic effect of this translocation and loss of almost half of the long arm of the X chromosome is described.
Similar content being viewed by others
References
Åkesson HO, Hagberg B, Wahlström J (1980) Y-to-X chromosome translocation observed in two generations. Hum Genet 55:39–42
Benitez J, Rivera L, Ramos C, Tejedore E, Sanchez-Cascos A (1979) Translocation of a supernumerary Y to a 15: study of six cases (three males and three females) in three generations. Hum Genet 48:191–194
Bernstein R, Wagner J, Isdale J, Nurse GT, Lane AB, Jenkins T (1978) X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical and serogenetic studies. J Med Genet 15:466–474
Bernstein R, Pinto MR, Almeida M, Solarsh SM, Meck J, Jenkins T (1980) X; Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism. J Med Genet 17: 437–443
Borgaonkar DS, Sroka BM, Flores M (1974) Y-to-X translocation in a girl. Lancet i:68–69
Cohen MM, Frederick RW, Balkin NE, Simpson SJ (1981) The identification of Y chromosome translocations following distamycin A treatment. Clin Genet 19:335–342
Cooke HJ, Noel B (1979) Confirmation of Y/autosome translocations using recombinant DNA. Hum Genet 50:39–44
Davis RM (1981) Localisation 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, 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
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
Hecht Th, Cooke HJ, Cerrillo M, Meer B, Reck G, Hameister H (1980) A new case of Y to X translocation in a female. Hum Genet 54:303–307
Khudr G, Benirschke K (1973) X-Y translocation. Am J Obstet Gynecol 116:584–585
Khudr G, Benirschke K, Judd HL, Strauss J (1973) Y to X translocation in a woman with reproductive failure. A new rearrangement. JAMA 26:544–549
Kim MA, Johannsmann R, Grzeschik KH (1975) Giemsa staining of the sites replicating DNA early in human lymphocyte chromosomes. Cytogenet Cell Genet 15:363–371
Koo GC, Wachtel SS, Krupen-Brown K, Mittl LR, Breg WR, Genel M, Rosenthal IM, Borgaonkar DS, Miller DA, Tantravahi R, Schreck RR, Erlanger BF, Miller OJ (1977) Mapping the locus of the H-Y gene on the human Y chromosome. Science 198:940–942
Madan K (1983) Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 63:216–221
Metaxotou C, Ikkos D, Panagiotopoulou P, Alevizaki M, Mavrou A, Tsenghi C, Matsaniotis N (1983) A familial X/Y translocation in a boy with ichthyosis, hypogonadmism and mental retardation. Clin Genet 24:380–383
Pearson PL, Bobrow M (1970) Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during meiosis in the human male. Nature 226:959–961
Pfeiffer RA (1980) Observations in a case of an X/Y translocation, t(X;Y) (p22; q11), in a mother and son. Cytogenet Cell Genet 26:150–157
Sanger R, Tippett P, Gavin J, Peesdale P, Daniels GL (1977) Xg groups and sex chromosome abnormalities in people of Northern European ancestry: an addendum. J Med Genet 14:210–213
Schellhas HF (1974) Malignant potential of the dysgenetic gonad. Obstet Gynecol 44:298–309
Simpson JL (1979) Gonadal dysgenesis and sex chromosome abnormalities: phenotypic-karyotypic correlations. In: Vallet HL, Porter IH (eds) Genetic mechanisms of sexual development. Academic Press, New York, pp 365–405
Tiepolo L, Zuffardi O, Rodewald A (1977) Nullisomy for the distal portion of Xp in a male child with an X/Y translocation. Hum Genet 39:277–281
Tiepolo L, Zuffardi O, Fraccaro M, diNatale D, Gargantini L, Müller CR, Ropers HH (1980) Assignment by deletion mapping of the steroid sulphatase X-linked ichthyosis locus to Xp223. Hum Genet 54:205–206
Turner HH (1938) A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology 23:566–574
van den Berghe H, Petit P, Fryns JP (1977) Y to X translocation in man. Hum Genet 36:129–141
Yamada K, Nanko S, Hattori S, Isurugi K (1982) Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers. Hum Genet 60:85–90
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Cameron, I.T., Buckton, K.E. & Baird, D.T. X-Y translocation. A case report. Hum Genet 67, 457–459 (1984). https://doi.org/10.1007/BF00291411
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00291411