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Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy

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Summary

Reexamination was made on a male infant previously reported as 21-monosomy. Extensive chromosome banding analyses in the patient and parents disclosed an unbalanced de novo translocation between chromosomes 13 and 21. The patient's karyotype was interpreted as 45,XY,-13,-21,+der(13),t(13;21) (q2 or 3;q1 or 2)pat. The patient showed many clinical features characteristic of 13q- syndrome.

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References

  • Dutrillaux, B., Laurent, C., Couturier, J., Lejeune, J.: Coloration par l'acridine orange de chromosomes préalablement traités par le 5-bromodéoxyuridine (BUDR). C.R. Acad. Sci. (Paris) 276, 3179–3181 (1973)

    Google Scholar 

  • Kaneko, Y., Ikeuchi, T., Sasaki, M., Satake, Y., Kuwajima, S.: A male infant with monosomy 21. Humangenetik 29, 1–7 (1975)

    Google Scholar 

  • Niebuhr, E., Ottosen, J.: Ring chromosome D(13) associated with multiple congenital malformations. Ann. Génét. 16, 157–166 (1973)

    Google Scholar 

  • Schinzel, A.: Does full monosomy 21 exist? Hum. Genet. 32, 105–107 (1976)

    Google Scholar 

  • Warren, R. J., Rimoin, D. L.: The G deletion syndromes. J. Pediat. 77, 658–663 (1970)

    Google Scholar 

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Ikeuchi, T., Kondo, I., Sasaki, M. et al. Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy. Hum Genet 33, 327–330 (1976). https://doi.org/10.1007/BF00286861

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  • DOI: https://doi.org/10.1007/BF00286861

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