Summary
A male infant, the proband, with 46,Y,der(X),t(X;Y)(p22.3; q11.1), and his mother with 46,X,der(X),t(X;Y)(q22.3;q11.1) are presented. The proband was involved with a peculiar face, congenital heart disease, dry and scaly skin, and growth and psychomotor retardation. He died on the 111th day after birth. At necropsy a congenital heart disease was found, but there was no other major visceral malformation. The mother of the proband was healthy except for her short stature associated with disproportionately short limbs. Steroid sulfatase activity in her skin fibroblasts and lymphocytes was only half that of normal females.
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Åkesson, H.O., Hagberg, B., and Wahlström, J. 1980. Y-to-X chromosome translocation observed in two generation.Hum. Genet. 55: 39–42.
Allderdice, P.W., Aveling, J.V., Eales, M.J., McAlpine, P.J., Ross, J.B., and Simms, R.J. 1983. Familial t(X;Y)(q22.3;q11) associated with short stature in 4 male and 5 female carriers, and with X-linked ichthyosis and anhydrosis in 4 male carriers.Am. J. Hum. Genet. 35: 124A (Abstr).
Bernstein, R., Wagner, J., Isdale, J., Nurse, G.T., Lane, A.B., and Jenkins, T. 1978. X-Y translocation in a retarded phenotypic male.J. Med. Genet. 15: 466–474.
Bernstein, R., Pinto, M.R., Almeida, M., Solarsh, S.M., Meck, J., and Jenkins, T. 1980. X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism.J. Med. Genet. 17: 437–443.
Bernstein, R. 1985. X;Y chromosome translocations and their manifestations. InThe Y Chromosome. Part B: Clinical Aspect of Y Chromosome Abnormalities, Sandberg, A.A., ed., Alan R Liss, Inc., New York, pp. 171–206.
Borgaonkar, D.S., Sroka, B.M., and Flores, M. 1974. Y-to-X translocation in a girl.Lancet 1: 68–69.
Boyd, E., Ferguson-Smith, M.A., Ferguson-Smith, M.E., Jamieson, M.E., Russell, J.E., Aitken, D.A., Sanger, R., and Tippett, P. 1981. A case of X;Y translocation which maps the Xg locus to Xp24→pter.J. Med. Genet. 18: 224 (Abstr).
Burstein, S. and Dorfman, R. 1963. Determination of mammalian steroid sulfatase with 7-3H-3 β-hydroxyandrost-5-en-17-one sulfatase.J. Biol. Chem. 238: 1656–1660.
Cohen, M.M., Frederick, R.M., Balkin, N.E., and Simpson, S.J. 1981. The identification of Y chromosome translocations following Distamycin A treatment.Clin. Genet. 19: 335–342.
Hecht, T., Cooke, H.J., Cerrillo, M., Meer, B., Reck, G., and Hemeister, H. 1980. A new case of Y to X translocation in a female.Hum. Genet. 54: 303–307.
Johnston, K., Schonberg, S., Littman, V., Gregory, T., Gelbert, S., O'Donnell, J., and Cox, D.R. 1987.De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities.Am. J. Hum. Genet. 27: 603–611.
Khudr, G., Benirschke, K., Judd, H.L., and Strauss, J. 1973. Y to X translocation in a woman with reproductive failure: A new rearrangement.J. Am. Med. Assoc. 226: 544–549.
Metaxotou, C., Ikkos, D., Panagiotopoulou, P., Alevizaki, M., Mavrou, A., Tsenghi, C., and Matsaniotis, N. 1983. A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation.Clin. Genet. 24: 380–383.
Ohno, S. 1976. Major regulatory genes for mammalian sexual development.Cell 7: 315–321.
Pfeiffer, R.A. 1980. Observations in a case of an X/Y translocation, t(X;Y)(q22;q11), in a mother and son.Cytogenet. Cell. Genet. 26: 150–157.
Ross, J.B., Allderdice, P.W., Shapiro, L.J., Aveling, J., Eales, B.A., and Simms, D., Jr. 1985. Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp22.3→pter.Arch. Dermatol. 121: 1524–1528.
Speevak, M., Clifford, B., Cox, D.M., and Hunter, A.G.W. 1985. Deletion at amniocentesis of a maternally inherited X;Y translocation.Clin. Genet. 27: 595–599.
Tiepolo, L., Zuffardi, O., and Rodewald, A. 1977. Nullisomy for the distal portion of Xp in a male child with a X/Y translocation.Hum. Genet. 39: 277–281.
Tiepolo, L., Zuffardi, O., Fraccaro, M., di Natale, D., Gargantini, L., Müller, C.R., and Ropers, H.H. 1980. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp22.3.Hum. Genet. 54: 205–206.
Van den Berghe, H., Petit, P., and Fryns, J.P. 1977. Y to X translocation in man.Hum. Genet. 36: 129–141.
Wegner, S., Muneer, R., and Rennert, O. 1984. An X;Y translocation, t(X;Y)(p22;q11) in three generations.Am. J. Hum. Genet (Suppl)36: 117S (Abstr).
Yamada, K., Nanko, S., Hattori, S., and 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.
Zuffardi, O., Maraschio, P., LoCurto, F., Müller, U., Giarola, A., and Perotti, L. 1982. The role of Yp in sex determination: New evidence from X/Y translocations.Am. J. Med. Genet. 12: 175–184.
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Ohdo, S., Yamada, K., Madokoro, H. et al. Familial X;Y translocation in a malformed male infant and his mother. Jap J Human Genet 33, 377–384 (1988). https://doi.org/10.1007/BF02032869
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DOI: https://doi.org/10.1007/BF02032869