Summary
A 14-year-old mentally retarded boy with congenital malformations of unknown etiology was found to have a de novo apparently balanced reciprocal translocation between chromosomal arms 1q and 13q. There is only one other case where a similar translocation was observed but the breakpoints could be localized only by regions and the individual was not mentally retarded.
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Borgaonkar, D. S.: Philadelphia-chromosome translocation and chronic myeloid leukaemia. Lancet 1973I, 1250
Caspersson, T., Lomakka, G., Zech, L.: The twenty-four fluorescence patterns of the human metaphase chromosomes—distinguishing characters and variability. Hereditas 69, 89 (1971)
Hayata, I., Kakati, S., Sandberg, A. A.: A new translocation related to the Philadelphia chromosome. Lancet 1973II, 1385
Hirschhorn, K., Lucas, M., Wallace, I.: Precise identification of various chromosomal abnormalities. Ann. Hum. Genet. 36, 375–379 (1973)
Hsu, L.: Personal communication (1976)
Jacobs, P. A.: Correlation between euploid structural chromosome rearrangements and mental subnormality in humans. Nature 249, 164–165 (1974)
Jenkins, E. C., Curcuru-Giordano, F. M., Krishna, S. G., Cantarella, J.: De novo occurrence of 46,XX,t(4;13)(q31;q14) in a mentally retarded girl. Ann. Genet. 18, 117–120 (1975)
Klinger, H. P.: Rapid processing of primary embryonic tissues for chromosome banding pattern analysis. Cytogenetics 11, 424 (1972)
Paris Conference: Standardization in human cytogenetics. In: Birth defects: Original article series, Vol. 8, p. 7, 1972. New York: The National Foundation 1971
Rozynkowa, D., Trebicka-Kwiatkowska, B., Stepien, J., Raczkeiwicz, B., Krzeminski, A.: Recurrent abortions and paternal balanced translocation t(1q-;13q+). Hum. Genet. 28, 349–351 (1975)
Salamanca, F., Armendares, S.: C-bands in human metaphase chromosomes treated by barium hydroxide. Ann. Genet. 17, 135–136 (1974)
Stoll, C., Levy, J. M.: Translocation t(3;20)(p14;p12) de novo chez une fillette. Ann. Genet. 17, 197–199 (1974)
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Wilbur, L., Curcuru-Giordano, F.M., Krishna, S.G. et al. A case of 46,XY,t(1;13) (q24;q32) with mental retardation. Hum Genet 37, 239–242 (1977). https://doi.org/10.1007/BF00393588
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DOI: https://doi.org/10.1007/BF00393588